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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: 14-61740839-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=61740839&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 61740839,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001243084.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIF1A",
"gene_hgnc_id": 4910,
"hgvs_c": "c.1744C>T",
"hgvs_p": "p.Pro582Ser",
"transcript": "NM_001530.4",
"protein_id": "NP_001521.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 826,
"cds_start": 1744,
"cds_end": null,
"cds_length": 2481,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000337138.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001530.4"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIF1A",
"gene_hgnc_id": 4910,
"hgvs_c": "c.1744C>T",
"hgvs_p": "p.Pro582Ser",
"transcript": "ENST00000337138.9",
"protein_id": "ENSP00000338018.4",
"transcript_support_level": 1,
"aa_start": 582,
"aa_end": null,
"aa_length": 826,
"cds_start": 1744,
"cds_end": null,
"cds_length": 2481,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001530.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000337138.9"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIF1A",
"gene_hgnc_id": 4910,
"hgvs_c": "c.1816C>T",
"hgvs_p": "p.Pro606Ser",
"transcript": "ENST00000539097.2",
"protein_id": "ENSP00000437955.1",
"transcript_support_level": 1,
"aa_start": 606,
"aa_end": null,
"aa_length": 850,
"cds_start": 1816,
"cds_end": null,
"cds_length": 2553,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539097.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIF1A",
"gene_hgnc_id": 4910,
"hgvs_c": "c.1747C>T",
"hgvs_p": "p.Pro583Ser",
"transcript": "ENST00000394997.5",
"protein_id": "ENSP00000378446.1",
"transcript_support_level": 1,
"aa_start": 583,
"aa_end": null,
"aa_length": 827,
"cds_start": 1747,
"cds_end": null,
"cds_length": 2484,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394997.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIF1A",
"gene_hgnc_id": 4910,
"hgvs_c": "c.1744C>T",
"hgvs_p": "p.Pro582Ser",
"transcript": "ENST00000323441.10",
"protein_id": "ENSP00000323326.6",
"transcript_support_level": 1,
"aa_start": 582,
"aa_end": null,
"aa_length": 735,
"cds_start": 1744,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000323441.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIF1A",
"gene_hgnc_id": 4910,
"hgvs_c": "n.2045C>T",
"hgvs_p": null,
"transcript": "ENST00000557538.5",
"protein_id": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000557538.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIF1A",
"gene_hgnc_id": 4910,
"hgvs_c": "c.1885C>T",
"hgvs_p": "p.Pro629Ser",
"transcript": "ENST00000918845.1",
"protein_id": "ENSP00000588904.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 873,
"cds_start": 1885,
"cds_end": null,
"cds_length": 2622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918845.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIF1A",
"gene_hgnc_id": 4910,
"hgvs_c": "c.1882C>T",
"hgvs_p": "p.Pro628Ser",
"transcript": "ENST00000918848.1",
"protein_id": "ENSP00000588907.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 872,
"cds_start": 1882,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918848.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIF1A",
"gene_hgnc_id": 4910,
"hgvs_c": "c.1816C>T",
"hgvs_p": "p.Pro606Ser",
"transcript": "NM_001243084.2",
"protein_id": "NP_001230013.1",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 850,
"cds_start": 1816,
"cds_end": null,
"cds_length": 2553,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001243084.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIF1A",
"gene_hgnc_id": 4910,
"hgvs_c": "c.1738C>T",
"hgvs_p": "p.Pro580Ser",
"transcript": "ENST00000941081.1",
"protein_id": "ENSP00000611140.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 824,
"cds_start": 1738,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941081.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIF1A",
"gene_hgnc_id": 4910,
"hgvs_c": "c.1666C>T",
"hgvs_p": "p.Pro556Ser",
"transcript": "ENST00000918847.1",
"protein_id": "ENSP00000588906.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 800,
"cds_start": 1666,
"cds_end": null,
"cds_length": 2403,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918847.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIF1A",
"gene_hgnc_id": 4910,
"hgvs_c": "c.1624C>T",
"hgvs_p": "p.Pro542Ser",
"transcript": "ENST00000918844.1",
"protein_id": "ENSP00000588903.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 786,
"cds_start": 1624,
"cds_end": null,
"cds_length": 2361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918844.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIF1A",
"gene_hgnc_id": 4910,
"hgvs_c": "c.1621C>T",
"hgvs_p": "p.Pro541Ser",
"transcript": "ENST00000908731.1",
"protein_id": "ENSP00000578790.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 785,
"cds_start": 1621,
"cds_end": null,
"cds_length": 2358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908731.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIF1A",
"gene_hgnc_id": 4910,
"hgvs_c": "c.1516C>T",
"hgvs_p": "p.Pro506Ser",
"transcript": "ENST00000918846.1",
"protein_id": "ENSP00000588905.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 750,
"cds_start": 1516,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918846.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIF1A",
"gene_hgnc_id": 4910,
"hgvs_c": "c.1744C>T",
"hgvs_p": "p.Pro582Ser",
"transcript": "NM_181054.3",
"protein_id": "NP_851397.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 735,
"cds_start": 1744,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181054.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIF1A",
"gene_hgnc_id": 4910,
"hgvs_c": "c.928C>T",
"hgvs_p": "p.Pro310Ser",
"transcript": "ENST00000918851.1",
"protein_id": "ENSP00000588910.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 554,
"cds_start": 928,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918851.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIF1A",
"gene_hgnc_id": 4910,
"hgvs_c": "c.628C>T",
"hgvs_p": "p.Pro210Ser",
"transcript": "ENST00000918850.1",
"protein_id": "ENSP00000588909.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 454,
"cds_start": 628,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918850.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "HIF1A",
"gene_hgnc_id": 4910,
"hgvs_c": "c.1659+212C>T",
"hgvs_p": null,
"transcript": "ENST00000918849.1",
"protein_id": "ENSP00000588908.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 687,
"cds_start": null,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918849.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "HIF1A",
"gene_hgnc_id": 4910,
"hgvs_c": "c.1539+2466C>T",
"hgvs_p": null,
"transcript": "ENST00000908732.1",
"protein_id": "ENSP00000578791.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 647,
"cds_start": null,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908732.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "HIF1A",
"gene_hgnc_id": 4910,
"hgvs_c": "c.1536+2466C>T",
"hgvs_p": null,
"transcript": "ENST00000918843.1",
"protein_id": "ENSP00000588902.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 646,
"cds_start": null,
"cds_end": null,
"cds_length": 1941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918843.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "HIF1A",
"gene_hgnc_id": 4910,
"hgvs_c": "c.1536+2466C>T",
"hgvs_p": null,
"transcript": "ENST00000941082.1",
"protein_id": "ENSP00000611141.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 604,
"cds_start": null,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941082.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "HIF1A",
"gene_hgnc_id": 4910,
"hgvs_c": "c.1252+3730C>T",
"hgvs_p": null,
"transcript": "ENST00000918842.1",
"protein_id": "ENSP00000588901.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 543,
"cds_start": null,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001243084.2",
"gene_symbol": "HIF1A",
"hgnc_id": 4910,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1816C>T",
"hgvs_p": "p.Pro606Ser"
},
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000554254.3",
"gene_symbol": "ENSG00000258667",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.279+10046G>A",
"hgvs_p": null
},
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000555937.1",
"gene_symbol": "ENSG00000258964",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.148+6554C>T",
"hgvs_p": null
},
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BA1"
],
"verdict": "Benign",
"transcript": "NR_144368.1",
"gene_symbol": "HIF1A-AS3",
"hgnc_id": 54284,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.213+10046G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Cholangiocarcinoma,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 B:1",
"phenotype_combined": "not provided|Cholangiocarcinoma",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}