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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: 6-31970635-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=31970635&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 31970635,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000337523.10",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DXO",
"gene_hgnc_id": 2992,
"hgvs_c": "c.783C>T",
"hgvs_p": "p.His261His",
"transcript": "NM_005510.4",
"protein_id": "NP_005501.2",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 396,
"cds_start": 783,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 999,
"cdna_end": null,
"cdna_length": 1469,
"mane_select": "ENST00000337523.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DXO",
"gene_hgnc_id": 2992,
"hgvs_c": "c.783C>T",
"hgvs_p": "p.His261His",
"transcript": "ENST00000337523.10",
"protein_id": "ENSP00000337759.5",
"transcript_support_level": 1,
"aa_start": 261,
"aa_end": null,
"aa_length": 396,
"cds_start": 783,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 999,
"cdna_end": null,
"cdna_length": 1469,
"mane_select": "NM_005510.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DXO",
"gene_hgnc_id": 2992,
"hgvs_c": "c.783C>T",
"hgvs_p": "p.His261His",
"transcript": "ENST00000375356.7",
"protein_id": "ENSP00000364505.3",
"transcript_support_level": 1,
"aa_start": 261,
"aa_end": null,
"aa_length": 396,
"cds_start": 783,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 1092,
"cdna_end": null,
"cdna_length": 1533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DXO",
"gene_hgnc_id": 2992,
"hgvs_c": "n.1289C>T",
"hgvs_p": null,
"transcript": "ENST00000473976.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2025,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DXO",
"gene_hgnc_id": 2992,
"hgvs_c": "n.1618C>T",
"hgvs_p": null,
"transcript": "ENST00000477826.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DXO",
"gene_hgnc_id": 2992,
"hgvs_c": "n.664C>T",
"hgvs_p": null,
"transcript": "ENST00000478221.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DXO",
"gene_hgnc_id": 2992,
"hgvs_c": "n.1281C>T",
"hgvs_p": null,
"transcript": "ENST00000492946.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1474,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DXO",
"gene_hgnc_id": 2992,
"hgvs_c": "n.877C>T",
"hgvs_p": null,
"transcript": "ENST00000498357.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DXO",
"gene_hgnc_id": 2992,
"hgvs_c": "c.783C>T",
"hgvs_p": "p.His261His",
"transcript": "NM_001438478.1",
"protein_id": "NP_001425407.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 396,
"cds_start": 783,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 1246,
"cdna_end": null,
"cdna_length": 1716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DXO",
"gene_hgnc_id": 2992,
"hgvs_c": "c.783C>T",
"hgvs_p": "p.His261His",
"transcript": "NM_001438479.1",
"protein_id": "NP_001425408.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 396,
"cds_start": 783,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 1043,
"cdna_end": null,
"cdna_length": 1513,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DXO",
"gene_hgnc_id": 2992,
"hgvs_c": "c.783C>T",
"hgvs_p": "p.His261His",
"transcript": "ENST00000375349.7",
"protein_id": "ENSP00000364498.3",
"transcript_support_level": 5,
"aa_start": 261,
"aa_end": null,
"aa_length": 396,
"cds_start": 783,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 1195,
"cdna_end": null,
"cdna_length": 1667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DXO",
"gene_hgnc_id": 2992,
"hgvs_c": "c.231C>T",
"hgvs_p": "p.His77His",
"transcript": "NM_001371205.1",
"protein_id": "NP_001358134.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 212,
"cds_start": 231,
"cds_end": null,
"cds_length": 639,
"cdna_start": 1057,
"cdna_end": null,
"cdna_length": 1527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DXO",
"gene_hgnc_id": 2992,
"hgvs_c": "c.231C>T",
"hgvs_p": "p.His77His",
"transcript": "NM_001371206.1",
"protein_id": "NP_001358135.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 212,
"cds_start": 231,
"cds_end": null,
"cds_length": 639,
"cdna_start": 899,
"cdna_end": null,
"cdna_length": 1369,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DXO",
"gene_hgnc_id": 2992,
"hgvs_c": "c.231C>T",
"hgvs_p": "p.His77His",
"transcript": "NM_001438480.1",
"protein_id": "NP_001425409.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 212,
"cds_start": 231,
"cds_end": null,
"cds_length": 639,
"cdna_start": 637,
"cdna_end": null,
"cdna_length": 1107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DXO",
"gene_hgnc_id": 2992,
"hgvs_c": "c.201C>T",
"hgvs_p": "p.His67His",
"transcript": "ENST00000495340.5",
"protein_id": "ENSP00000419588.1",
"transcript_support_level": 5,
"aa_start": 67,
"aa_end": null,
"aa_length": 173,
"cds_start": 201,
"cds_end": null,
"cds_length": 522,
"cdna_start": 203,
"cdna_end": null,
"cdna_length": 586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DXO",
"gene_hgnc_id": 2992,
"hgvs_c": "c.783C>T",
"hgvs_p": "p.His261His",
"transcript": "XM_047418263.1",
"protein_id": "XP_047274219.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 275,
"cds_start": 783,
"cds_end": null,
"cds_length": 828,
"cdna_start": 1246,
"cdna_end": null,
"cdna_length": 1406,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DXO",
"gene_hgnc_id": 2992,
"hgvs_c": "n.778C>T",
"hgvs_p": null,
"transcript": "ENST00000474587.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1115,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DXO",
"gene_hgnc_id": 2992,
"hgvs_c": "n.*77C>T",
"hgvs_p": null,
"transcript": "ENST00000480240.5",
"protein_id": "ENSP00000418632.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DXO",
"gene_hgnc_id": 2992,
"hgvs_c": "n.1403C>T",
"hgvs_p": null,
"transcript": "ENST00000485557.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DXO",
"gene_hgnc_id": 2992,
"hgvs_c": "n.793C>T",
"hgvs_p": null,
"transcript": "ENST00000491327.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DXO",
"gene_hgnc_id": 2992,
"hgvs_c": "n.926C>T",
"hgvs_p": null,
"transcript": "NR_199378.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DXO",
"gene_hgnc_id": 2992,
"hgvs_c": "n.826C>T",
"hgvs_p": null,
"transcript": "NR_199379.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DXO",
"gene_hgnc_id": 2992,
"hgvs_c": "n.1173C>T",
"hgvs_p": null,
"transcript": "NR_199380.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
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"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"transcript": "NR_199381.1",
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"cds_start": -4,
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
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"gene_symbol": "DXO",
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"hgvs_c": "n.*77C>T",
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"transcript": "ENST00000480240.5",
"protein_id": "ENSP00000418632.1",
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"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 3,
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"gene_symbol": "DXO",
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"hgvs_c": "n.*8C>T",
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"transcript": "ENST00000487914.1",
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"cdna_length": 1016,
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"feature": null
}
],
"gene_symbol": "DXO",
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"dbsnp": "rs17207867",
"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": 0.08100000023841858,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0.07999999821186066,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.081,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.621,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.08,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000337523.10",
"gene_symbol": "DXO",
"hgnc_id": 2992,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.783C>T",
"hgvs_p": "p.His261His"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}