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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: 19-12680163-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=12680163&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 12680163,
"ref": "T",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001930.4",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHPS",
"gene_hgnc_id": 2869,
"hgvs_c": "c.370A>G",
"hgvs_p": "p.Met124Val",
"transcript": "NM_001930.4",
"protein_id": "NP_001921.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 369,
"cds_start": 370,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 484,
"cdna_end": null,
"cdna_length": 1345,
"mane_select": "ENST00000210060.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001930.4"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHPS",
"gene_hgnc_id": 2869,
"hgvs_c": "c.370A>G",
"hgvs_p": "p.Met124Val",
"transcript": "ENST00000210060.12",
"protein_id": "ENSP00000210060.6",
"transcript_support_level": 1,
"aa_start": 124,
"aa_end": null,
"aa_length": 369,
"cds_start": 370,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 484,
"cdna_end": null,
"cdna_length": 1345,
"mane_select": "NM_001930.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000210060.12"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHPS",
"gene_hgnc_id": 2869,
"hgvs_c": "c.370A>G",
"hgvs_p": "p.Met124Val",
"transcript": "ENST00000351660.9",
"protein_id": "ENSP00000221303.5",
"transcript_support_level": 1,
"aa_start": 124,
"aa_end": null,
"aa_length": 322,
"cds_start": 370,
"cds_end": null,
"cds_length": 969,
"cdna_start": 375,
"cdna_end": null,
"cdna_length": 1090,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000351660.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHPS",
"gene_hgnc_id": 2869,
"hgvs_c": "n.370A>G",
"hgvs_p": null,
"transcript": "ENST00000601537.5",
"protein_id": "ENSP00000472122.1",
"transcript_support_level": 1,
"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": 1176,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000601537.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285589",
"gene_hgnc_id": null,
"hgvs_c": "n.331+39A>G",
"hgvs_p": null,
"transcript": "ENST00000648033.1",
"protein_id": "ENSP00000498000.1",
"transcript_support_level": null,
"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": 5025,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000648033.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHPS",
"gene_hgnc_id": 2869,
"hgvs_c": "c.370A>G",
"hgvs_p": "p.Met124Val",
"transcript": "ENST00000949482.1",
"protein_id": "ENSP00000619541.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 332,
"cds_start": 370,
"cds_end": null,
"cds_length": 999,
"cdna_start": 455,
"cdna_end": null,
"cdna_length": 1203,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949482.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHPS",
"gene_hgnc_id": 2869,
"hgvs_c": "c.370A>G",
"hgvs_p": "p.Met124Val",
"transcript": "ENST00000949481.1",
"protein_id": "ENSP00000619540.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 369,
"cds_start": 370,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 433,
"cdna_end": null,
"cdna_length": 1363,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949481.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHPS",
"gene_hgnc_id": 2869,
"hgvs_c": "c.370A>G",
"hgvs_p": "p.Met124Val",
"transcript": "ENST00000917713.1",
"protein_id": "ENSP00000587772.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 366,
"cds_start": 370,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 481,
"cdna_end": null,
"cdna_length": 1333,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917713.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHPS",
"gene_hgnc_id": 2869,
"hgvs_c": "c.370A>G",
"hgvs_p": "p.Met124Val",
"transcript": "NM_001369691.1",
"protein_id": "NP_001356620.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 363,
"cds_start": 370,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 484,
"cdna_end": null,
"cdna_length": 1281,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369691.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHPS",
"gene_hgnc_id": 2869,
"hgvs_c": "c.370A>G",
"hgvs_p": "p.Met124Val",
"transcript": "ENST00000862636.1",
"protein_id": "ENSP00000532695.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 362,
"cds_start": 370,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 498,
"cdna_end": null,
"cdna_length": 1337,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862636.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHPS",
"gene_hgnc_id": 2869,
"hgvs_c": "c.370A>G",
"hgvs_p": "p.Met124Val",
"transcript": "ENST00000917717.1",
"protein_id": "ENSP00000587776.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 350,
"cds_start": 370,
"cds_end": null,
"cds_length": 1053,
"cdna_start": 465,
"cdna_end": null,
"cdna_length": 1267,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917717.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHPS",
"gene_hgnc_id": 2869,
"hgvs_c": "c.370A>G",
"hgvs_p": "p.Met124Val",
"transcript": "ENST00000862639.1",
"protein_id": "ENSP00000532698.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 340,
"cds_start": 370,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 470,
"cdna_end": null,
"cdna_length": 1242,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862639.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHPS",
"gene_hgnc_id": 2869,
"hgvs_c": "c.244A>G",
"hgvs_p": "p.Met82Val",
"transcript": "NM_001206974.2",
"protein_id": "NP_001193903.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 327,
"cds_start": 244,
"cds_end": null,
"cds_length": 984,
"cdna_start": 501,
"cdna_end": null,
"cdna_length": 1362,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001206974.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHPS",
"gene_hgnc_id": 2869,
"hgvs_c": "c.244A>G",
"hgvs_p": "p.Met82Val",
"transcript": "ENST00000594424.5",
"protein_id": "ENSP00000471886.1",
"transcript_support_level": 3,
"aa_start": 82,
"aa_end": null,
"aa_length": 327,
"cds_start": 244,
"cds_end": null,
"cds_length": 984,
"cdna_start": 337,
"cdna_end": null,
"cdna_length": 1172,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000594424.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHPS",
"gene_hgnc_id": 2869,
"hgvs_c": "c.370A>G",
"hgvs_p": "p.Met124Val",
"transcript": "NM_013406.3",
"protein_id": "NP_037538.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 322,
"cds_start": 370,
"cds_end": null,
"cds_length": 969,
"cdna_start": 484,
"cdna_end": null,
"cdna_length": 1204,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013406.3"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHPS",
"gene_hgnc_id": 2869,
"hgvs_c": "c.370A>G",
"hgvs_p": "p.Met124Val",
"transcript": "ENST00000862638.1",
"protein_id": "ENSP00000532697.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 308,
"cds_start": 370,
"cds_end": null,
"cds_length": 927,
"cdna_start": 484,
"cdna_end": null,
"cdna_length": 1157,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862638.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHPS",
"gene_hgnc_id": 2869,
"hgvs_c": "c.370A>G",
"hgvs_p": "p.Met124Val",
"transcript": "ENST00000862637.1",
"protein_id": "ENSP00000532696.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 299,
"cds_start": 370,
"cds_end": null,
"cds_length": 900,
"cdna_start": 488,
"cdna_end": null,
"cdna_length": 1138,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862637.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHPS",
"gene_hgnc_id": 2869,
"hgvs_c": "c.370A>G",
"hgvs_p": "p.Met124Val",
"transcript": "ENST00000917714.1",
"protein_id": "ENSP00000587773.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 293,
"cds_start": 370,
"cds_end": null,
"cds_length": 882,
"cdna_start": 481,
"cdna_end": null,
"cdna_length": 1114,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917714.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHPS",
"gene_hgnc_id": 2869,
"hgvs_c": "c.370A>G",
"hgvs_p": "p.Met124Val",
"transcript": "ENST00000917716.1",
"protein_id": "ENSP00000587775.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 270,
"cds_start": 370,
"cds_end": null,
"cds_length": 813,
"cdna_start": 481,
"cdna_end": null,
"cdna_length": 1041,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917716.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHPS",
"gene_hgnc_id": 2869,
"hgvs_c": "c.370A>G",
"hgvs_p": "p.Met124Val",
"transcript": "NM_001369692.1",
"protein_id": "NP_001356621.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 268,
"cds_start": 370,
"cds_end": null,
"cds_length": 807,
"cdna_start": 484,
"cdna_end": null,
"cdna_length": 1058,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369692.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHPS",
"gene_hgnc_id": 2869,
"hgvs_c": "c.169A>G",
"hgvs_p": "p.Met57Val",
"transcript": "ENST00000596162.1",
"protein_id": "ENSP00000472348.1",
"transcript_support_level": 3,
"aa_start": 57,
"aa_end": null,
"aa_length": 181,
"cds_start": 169,
"cds_end": null,
"cds_length": 546,
"cdna_start": 218,
"cdna_end": null,
"cdna_length": 595,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000596162.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"start_lost",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHPS",
"gene_hgnc_id": 2869,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
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}
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}