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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: 14-61732425-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=61732425&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 61732425,
"ref": "G",
"alt": "T",
"effect": "stop_gained",
"transcript": "NM_001243084.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIF1A",
"gene_hgnc_id": 4910,
"hgvs_c": "c.781G>T",
"hgvs_p": "p.Glu261*",
"transcript": "NM_001530.4",
"protein_id": "NP_001521.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 826,
"cds_start": 781,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 1073,
"cdna_end": null,
"cdna_length": 3946,
"mane_select": "ENST00000337138.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001530.4"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIF1A",
"gene_hgnc_id": 4910,
"hgvs_c": "c.781G>T",
"hgvs_p": "p.Glu261*",
"transcript": "ENST00000337138.9",
"protein_id": "ENSP00000338018.4",
"transcript_support_level": 1,
"aa_start": 261,
"aa_end": null,
"aa_length": 826,
"cds_start": 781,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 1073,
"cdna_end": null,
"cdna_length": 3946,
"mane_select": "NM_001530.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000337138.9"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIF1A",
"gene_hgnc_id": 4910,
"hgvs_c": "c.853G>T",
"hgvs_p": "p.Glu285*",
"transcript": "ENST00000539097.2",
"protein_id": "ENSP00000437955.1",
"transcript_support_level": 1,
"aa_start": 285,
"aa_end": null,
"aa_length": 850,
"cds_start": 853,
"cds_end": null,
"cds_length": 2553,
"cdna_start": 1082,
"cdna_end": null,
"cdna_length": 3956,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539097.2"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIF1A",
"gene_hgnc_id": 4910,
"hgvs_c": "c.784G>T",
"hgvs_p": "p.Glu262*",
"transcript": "ENST00000394997.5",
"protein_id": "ENSP00000378446.1",
"transcript_support_level": 1,
"aa_start": 262,
"aa_end": null,
"aa_length": 827,
"cds_start": 784,
"cds_end": null,
"cds_length": 2484,
"cdna_start": 1049,
"cdna_end": null,
"cdna_length": 3922,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394997.5"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIF1A",
"gene_hgnc_id": 4910,
"hgvs_c": "c.781G>T",
"hgvs_p": "p.Glu261*",
"transcript": "ENST00000323441.10",
"protein_id": "ENSP00000323326.6",
"transcript_support_level": 1,
"aa_start": 261,
"aa_end": null,
"aa_length": 735,
"cds_start": 781,
"cds_end": null,
"cds_length": 2208,
"cdna_start": 809,
"cdna_end": null,
"cdna_length": 3555,
"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": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIF1A",
"gene_hgnc_id": 4910,
"hgvs_c": "n.1082G>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": 3468,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000557538.5"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIF1A",
"gene_hgnc_id": 4910,
"hgvs_c": "c.922G>T",
"hgvs_p": "p.Glu308*",
"transcript": "ENST00000918845.1",
"protein_id": "ENSP00000588904.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 873,
"cds_start": 922,
"cds_end": null,
"cds_length": 2622,
"cdna_start": 1212,
"cdna_end": null,
"cdna_length": 4085,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918845.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIF1A",
"gene_hgnc_id": 4910,
"hgvs_c": "c.919G>T",
"hgvs_p": "p.Glu307*",
"transcript": "ENST00000918848.1",
"protein_id": "ENSP00000588907.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 872,
"cds_start": 919,
"cds_end": null,
"cds_length": 2619,
"cdna_start": 1204,
"cdna_end": null,
"cdna_length": 4076,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918848.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIF1A",
"gene_hgnc_id": 4910,
"hgvs_c": "c.853G>T",
"hgvs_p": "p.Glu285*",
"transcript": "NM_001243084.2",
"protein_id": "NP_001230013.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 850,
"cds_start": 853,
"cds_end": null,
"cds_length": 2553,
"cdna_start": 992,
"cdna_end": null,
"cdna_length": 3865,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001243084.2"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIF1A",
"gene_hgnc_id": 4910,
"hgvs_c": "c.781G>T",
"hgvs_p": "p.Glu261*",
"transcript": "ENST00000941081.1",
"protein_id": "ENSP00000611140.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 824,
"cds_start": 781,
"cds_end": null,
"cds_length": 2475,
"cdna_start": 1072,
"cdna_end": null,
"cdna_length": 3939,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941081.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIF1A",
"gene_hgnc_id": 4910,
"hgvs_c": "c.781G>T",
"hgvs_p": "p.Glu261*",
"transcript": "ENST00000918847.1",
"protein_id": "ENSP00000588906.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 800,
"cds_start": 781,
"cds_end": null,
"cds_length": 2403,
"cdna_start": 1069,
"cdna_end": null,
"cdna_length": 3863,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918847.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIF1A",
"gene_hgnc_id": 4910,
"hgvs_c": "c.784G>T",
"hgvs_p": "p.Glu262*",
"transcript": "ENST00000918844.1",
"protein_id": "ENSP00000588903.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 786,
"cds_start": 784,
"cds_end": null,
"cds_length": 2361,
"cdna_start": 1084,
"cdna_end": null,
"cdna_length": 3834,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918844.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIF1A",
"gene_hgnc_id": 4910,
"hgvs_c": "c.781G>T",
"hgvs_p": "p.Glu261*",
"transcript": "ENST00000908731.1",
"protein_id": "ENSP00000578790.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 785,
"cds_start": 781,
"cds_end": null,
"cds_length": 2358,
"cdna_start": 1073,
"cdna_end": null,
"cdna_length": 3823,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908731.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIF1A",
"gene_hgnc_id": 4910,
"hgvs_c": "c.553G>T",
"hgvs_p": "p.Glu185*",
"transcript": "ENST00000918846.1",
"protein_id": "ENSP00000588905.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 750,
"cds_start": 553,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 843,
"cdna_end": null,
"cdna_length": 3714,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918846.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIF1A",
"gene_hgnc_id": 4910,
"hgvs_c": "c.781G>T",
"hgvs_p": "p.Glu261*",
"transcript": "NM_181054.3",
"protein_id": "NP_851397.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 735,
"cds_start": 781,
"cds_end": null,
"cds_length": 2208,
"cdna_start": 1073,
"cdna_end": null,
"cdna_length": 3819,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181054.3"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIF1A",
"gene_hgnc_id": 4910,
"hgvs_c": "c.781G>T",
"hgvs_p": "p.Glu261*",
"transcript": "ENST00000918849.1",
"protein_id": "ENSP00000588908.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 687,
"cds_start": 781,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 1064,
"cdna_end": null,
"cdna_length": 3520,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918849.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIF1A",
"gene_hgnc_id": 4910,
"hgvs_c": "c.784G>T",
"hgvs_p": "p.Glu262*",
"transcript": "ENST00000908732.1",
"protein_id": "ENSP00000578791.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 647,
"cds_start": 784,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1071,
"cdna_end": null,
"cdna_length": 3401,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908732.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIF1A",
"gene_hgnc_id": 4910,
"hgvs_c": "c.781G>T",
"hgvs_p": "p.Glu261*",
"transcript": "ENST00000918843.1",
"protein_id": "ENSP00000588902.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 646,
"cds_start": 781,
"cds_end": null,
"cds_length": 1941,
"cdna_start": 1085,
"cdna_end": null,
"cdna_length": 3417,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918843.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIF1A",
"gene_hgnc_id": 4910,
"hgvs_c": "c.781G>T",
"hgvs_p": "p.Glu261*",
"transcript": "ENST00000941082.1",
"protein_id": "ENSP00000611141.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 604,
"cds_start": 781,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 1065,
"cdna_end": null,
"cdna_length": 3277,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941082.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIF1A",
"gene_hgnc_id": 4910,
"hgvs_c": "c.43G>T",
"hgvs_p": "p.Glu15*",
"transcript": "ENST00000918851.1",
"protein_id": "ENSP00000588910.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 554,
"cds_start": 43,
"cds_end": null,
"cds_length": 1665,
"cdna_start": 320,
"cdna_end": null,
"cdna_length": 3108,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918851.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIF1A",
"gene_hgnc_id": 4910,
"hgvs_c": "c.784G>T",
"hgvs_p": "p.Glu262*",
"transcript": "ENST00000918842.1",
"protein_id": "ENSP00000588901.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 543,
"cds_start": 784,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 1109,
"cdna_end": null,
"cdna_length": 3128,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918842.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"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.781G>T",
"hgvs_p": "p.Glu261*",
"transcript": "ENST00000941080.1",
"protein_id": "ENSP00000611139.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 466,
"cds_start": 781,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 1109,
"cdna_end": null,
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