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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 18-46084362-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=46084362&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 46084362,
"ref": "C",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_004046.6",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5F1A",
"gene_hgnc_id": 823,
"hgvs_c": "c.1582G>A",
"hgvs_p": "p.Ala528Thr",
"transcript": "NM_004046.6",
"protein_id": "NP_004037.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 553,
"cds_start": 1582,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000398752.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004046.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5F1A",
"gene_hgnc_id": 823,
"hgvs_c": "c.1582G>A",
"hgvs_p": "p.Ala528Thr",
"transcript": "ENST00000398752.11",
"protein_id": "ENSP00000381736.5",
"transcript_support_level": 1,
"aa_start": 528,
"aa_end": null,
"aa_length": 553,
"cds_start": 1582,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004046.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398752.11"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5F1A",
"gene_hgnc_id": 823,
"hgvs_c": "c.1582G>A",
"hgvs_p": "p.Ala528Thr",
"transcript": "NM_001001937.2",
"protein_id": "NP_001001937.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 553,
"cds_start": 1582,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001001937.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5F1A",
"gene_hgnc_id": 823,
"hgvs_c": "c.1582G>A",
"hgvs_p": "p.Ala528Thr",
"transcript": "ENST00000282050.6",
"protein_id": "ENSP00000282050.2",
"transcript_support_level": 5,
"aa_start": 528,
"aa_end": null,
"aa_length": 553,
"cds_start": 1582,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000282050.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5F1A",
"gene_hgnc_id": 823,
"hgvs_c": "c.1564G>A",
"hgvs_p": "p.Ala522Thr",
"transcript": "ENST00000858814.1",
"protein_id": "ENSP00000528873.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 547,
"cds_start": 1564,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858814.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5F1A",
"gene_hgnc_id": 823,
"hgvs_c": "c.1558G>A",
"hgvs_p": "p.Ala520Thr",
"transcript": "ENST00000966007.1",
"protein_id": "ENSP00000636066.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 545,
"cds_start": 1558,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966007.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5F1A",
"gene_hgnc_id": 823,
"hgvs_c": "c.1552G>A",
"hgvs_p": "p.Ala518Thr",
"transcript": "ENST00000939704.1",
"protein_id": "ENSP00000609763.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 543,
"cds_start": 1552,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939704.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5F1A",
"gene_hgnc_id": 823,
"hgvs_c": "c.1516G>A",
"hgvs_p": "p.Ala506Thr",
"transcript": "NM_001257334.2",
"protein_id": "NP_001244263.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 531,
"cds_start": 1516,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001257334.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5F1A",
"gene_hgnc_id": 823,
"hgvs_c": "c.1516G>A",
"hgvs_p": "p.Ala506Thr",
"transcript": "ENST00000590665.5",
"protein_id": "ENSP00000467037.1",
"transcript_support_level": 2,
"aa_start": 506,
"aa_end": null,
"aa_length": 531,
"cds_start": 1516,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590665.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5F1A",
"gene_hgnc_id": 823,
"hgvs_c": "c.1492G>A",
"hgvs_p": "p.Ala498Thr",
"transcript": "ENST00000858818.1",
"protein_id": "ENSP00000528877.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 523,
"cds_start": 1492,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858818.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5F1A",
"gene_hgnc_id": 823,
"hgvs_c": "c.1474G>A",
"hgvs_p": "p.Ala492Thr",
"transcript": "ENST00000858812.1",
"protein_id": "ENSP00000528871.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 517,
"cds_start": 1474,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858812.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5F1A",
"gene_hgnc_id": 823,
"hgvs_c": "c.1456G>A",
"hgvs_p": "p.Ala486Thr",
"transcript": "ENST00000858817.1",
"protein_id": "ENSP00000528876.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 511,
"cds_start": 1456,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858817.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5F1A",
"gene_hgnc_id": 823,
"hgvs_c": "c.1432G>A",
"hgvs_p": "p.Ala478Thr",
"transcript": "NM_001001935.3",
"protein_id": "NP_001001935.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 503,
"cds_start": 1432,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001001935.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5F1A",
"gene_hgnc_id": 823,
"hgvs_c": "c.1432G>A",
"hgvs_p": "p.Ala478Thr",
"transcript": "NM_001257335.2",
"protein_id": "NP_001244264.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 503,
"cds_start": 1432,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001257335.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5F1A",
"gene_hgnc_id": 823,
"hgvs_c": "c.1432G>A",
"hgvs_p": "p.Ala478Thr",
"transcript": "ENST00000593152.6",
"protein_id": "ENSP00000465477.2",
"transcript_support_level": 2,
"aa_start": 478,
"aa_end": null,
"aa_length": 503,
"cds_start": 1432,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000593152.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5F1A",
"gene_hgnc_id": 823,
"hgvs_c": "c.1408G>A",
"hgvs_p": "p.Ala470Thr",
"transcript": "ENST00000858815.1",
"protein_id": "ENSP00000528874.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 495,
"cds_start": 1408,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858815.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5F1A",
"gene_hgnc_id": 823,
"hgvs_c": "c.1333G>A",
"hgvs_p": "p.Ala445Thr",
"transcript": "ENST00000939706.1",
"protein_id": "ENSP00000609765.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 470,
"cds_start": 1333,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939706.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5F1A",
"gene_hgnc_id": 823,
"hgvs_c": "c.1159G>A",
"hgvs_p": "p.Ala387Thr",
"transcript": "ENST00000858816.1",
"protein_id": "ENSP00000528875.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 412,
"cds_start": 1159,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858816.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5F1A",
"gene_hgnc_id": 823,
"hgvs_c": "c.994G>A",
"hgvs_p": "p.Ala332Thr",
"transcript": "ENST00000858813.1",
"protein_id": "ENSP00000528872.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 357,
"cds_start": 994,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858813.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5F1A",
"gene_hgnc_id": 823,
"hgvs_c": "c.466G>A",
"hgvs_p": "p.Ala156Thr",
"transcript": "ENST00000939705.1",
"protein_id": "ENSP00000609764.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 181,
"cds_start": 466,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939705.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5F1A",
"gene_hgnc_id": 823,
"hgvs_c": "n.4335G>A",
"hgvs_p": null,
"transcript": "ENST00000586523.1",
"protein_id": null,
"transcript_support_level": 6,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000586523.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
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"exon_count": 12,
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{
"aa_ref": null,
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"canonical": false,
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"splice_region_variant",
"non_coding_transcript_exon_variant"
],
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"exon_count": 12,
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"gene_symbol": "ATP5F1A",
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
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"consequences": [
"3_prime_UTR_variant"
],
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"exon_count": 12,
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"gene_symbol": "ATP5F1A",
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{
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"protein_coding": false,
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"3_prime_UTR_variant"
],
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"exon_count": 12,
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"gene_symbol": "ATP5F1A",
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"transcript": "ENST00000590156.5",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000590156.5"
},
{
"aa_ref": null,
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"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
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"exon_count": 3,
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"gene_symbol": "ATP5F1A",
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"hgvs_c": "n.*65G>A",
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"transcript": "ENST00000587902.1",
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"transcript_support_level": 2,
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"cdna_length": null,
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"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000587902.1"
}
],
"gene_symbol": "ATP5F1A",
"gene_hgnc_id": 823,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.049441397190093994,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.245,
"revel_prediction": "Benign",
"alphamissense_score": 0.0575,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.438,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.000092795075894335,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_004046.6",
"gene_symbol": "ATP5F1A",
"hgnc_id": 823,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD,Unknown,AR",
"hgvs_c": "c.1582G>A",
"hgvs_p": "p.Ala528Thr"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}