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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: 10-3138239-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=3138239&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 3138239,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000224949.9",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.3016G>T",
"hgvs_p": "p.Asp1006Tyr",
"transcript": "NM_014889.4",
"protein_id": "NP_055704.2",
"transcript_support_level": null,
"aa_start": 1006,
"aa_end": null,
"aa_length": 1037,
"cds_start": 3016,
"cds_end": null,
"cds_length": 3114,
"cdna_start": 3026,
"cdna_end": null,
"cdna_length": 3427,
"mane_select": "ENST00000224949.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.3016G>T",
"hgvs_p": "p.Asp1006Tyr",
"transcript": "ENST00000224949.9",
"protein_id": "ENSP00000224949.4",
"transcript_support_level": 1,
"aa_start": 1006,
"aa_end": null,
"aa_length": 1037,
"cds_start": 3016,
"cds_end": null,
"cds_length": 3114,
"cdna_start": 3026,
"cdna_end": null,
"cdna_length": 3427,
"mane_select": "NM_014889.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.3019G>T",
"hgvs_p": "p.Asp1007Tyr",
"transcript": "ENST00000380989.6",
"protein_id": "ENSP00000370377.2",
"transcript_support_level": 1,
"aa_start": 1007,
"aa_end": null,
"aa_length": 1038,
"cds_start": 3019,
"cds_end": null,
"cds_length": 3117,
"cdna_start": 3088,
"cdna_end": null,
"cdna_length": 3487,
"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": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "n.2839G>T",
"hgvs_p": null,
"transcript": "ENST00000464395.1",
"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": 3240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.3019G>T",
"hgvs_p": "p.Asp1007Tyr",
"transcript": "NM_001242307.2",
"protein_id": "NP_001229236.1",
"transcript_support_level": null,
"aa_start": 1007,
"aa_end": null,
"aa_length": 1038,
"cds_start": 3019,
"cds_end": null,
"cds_length": 3117,
"cdna_start": 3029,
"cdna_end": null,
"cdna_length": 3430,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.2992G>T",
"hgvs_p": "p.Asp998Tyr",
"transcript": "NM_001347729.1",
"protein_id": "NP_001334658.1",
"transcript_support_level": null,
"aa_start": 998,
"aa_end": null,
"aa_length": 1029,
"cds_start": 2992,
"cds_end": null,
"cds_length": 3090,
"cdna_start": 3495,
"cdna_end": null,
"cdna_length": 3897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.2968G>T",
"hgvs_p": "p.Asp990Tyr",
"transcript": "ENST00000678987.1",
"protein_id": "ENSP00000504462.1",
"transcript_support_level": null,
"aa_start": 990,
"aa_end": null,
"aa_length": 1021,
"cds_start": 2968,
"cds_end": null,
"cds_length": 3066,
"cdna_start": 2985,
"cdna_end": null,
"cdna_length": 3374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.2893G>T",
"hgvs_p": "p.Asp965Tyr",
"transcript": "ENST00000678441.1",
"protein_id": "ENSP00000504785.1",
"transcript_support_level": null,
"aa_start": 965,
"aa_end": null,
"aa_length": 996,
"cds_start": 2893,
"cds_end": null,
"cds_length": 2991,
"cdna_start": 2911,
"cdna_end": null,
"cdna_length": 3294,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.2890G>T",
"hgvs_p": "p.Asp964Tyr",
"transcript": "ENST00000678370.1",
"protein_id": "ENSP00000504540.1",
"transcript_support_level": null,
"aa_start": 964,
"aa_end": null,
"aa_length": 995,
"cds_start": 2890,
"cds_end": null,
"cds_length": 2988,
"cdna_start": 2924,
"cdna_end": null,
"cdna_length": 3307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.2881G>T",
"hgvs_p": "p.Asp961Tyr",
"transcript": "ENST00000676953.1",
"protein_id": "ENSP00000504468.1",
"transcript_support_level": null,
"aa_start": 961,
"aa_end": null,
"aa_length": 992,
"cds_start": 2881,
"cds_end": null,
"cds_length": 2979,
"cdna_start": 2888,
"cdna_end": null,
"cdna_length": 3277,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.2818G>T",
"hgvs_p": "p.Asp940Tyr",
"transcript": "NM_001347725.2",
"protein_id": "NP_001334654.1",
"transcript_support_level": null,
"aa_start": 940,
"aa_end": null,
"aa_length": 971,
"cds_start": 2818,
"cds_end": null,
"cds_length": 2916,
"cdna_start": 2828,
"cdna_end": null,
"cdna_length": 3229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.2818G>T",
"hgvs_p": "p.Asp940Tyr",
"transcript": "ENST00000678436.1",
"protein_id": "ENSP00000503187.1",
"transcript_support_level": null,
"aa_start": 940,
"aa_end": null,
"aa_length": 971,
"cds_start": 2818,
"cds_end": null,
"cds_length": 2916,
"cdna_start": 2853,
"cdna_end": null,
"cdna_length": 3242,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.2794G>T",
"hgvs_p": "p.Asp932Tyr",
"transcript": "NM_001347730.1",
"protein_id": "NP_001334659.1",
"transcript_support_level": null,
"aa_start": 932,
"aa_end": null,
"aa_length": 963,
"cds_start": 2794,
"cds_end": null,
"cds_length": 2892,
"cdna_start": 3297,
"cdna_end": null,
"cdna_length": 3699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.2722G>T",
"hgvs_p": "p.Asp908Tyr",
"transcript": "NM_001242309.1",
"protein_id": "NP_001229238.1",
"transcript_support_level": null,
"aa_start": 908,
"aa_end": null,
"aa_length": 939,
"cds_start": 2722,
"cds_end": null,
"cds_length": 2820,
"cdna_start": 2784,
"cdna_end": null,
"cdna_length": 3185,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.2722G>T",
"hgvs_p": "p.Asp908Tyr",
"transcript": "ENST00000451104.6",
"protein_id": "ENSP00000401201.2",
"transcript_support_level": 2,
"aa_start": 908,
"aa_end": null,
"aa_length": 939,
"cds_start": 2722,
"cds_end": null,
"cds_length": 2820,
"cdna_start": 2784,
"cdna_end": null,
"cdna_length": 3183,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.2401G>T",
"hgvs_p": "p.Asp801Tyr",
"transcript": "NM_001347727.2",
"protein_id": "NP_001334656.1",
"transcript_support_level": null,
"aa_start": 801,
"aa_end": null,
"aa_length": 832,
"cds_start": 2401,
"cds_end": null,
"cds_length": 2499,
"cdna_start": 2982,
"cdna_end": null,
"cdna_length": 3383,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.2401G>T",
"hgvs_p": "p.Asp801Tyr",
"transcript": "ENST00000380994.6",
"protein_id": "ENSP00000370382.2",
"transcript_support_level": 5,
"aa_start": 801,
"aa_end": null,
"aa_length": 832,
"cds_start": 2401,
"cds_end": null,
"cds_length": 2499,
"cdna_start": 2884,
"cdna_end": null,
"cdna_length": 3274,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.2203G>T",
"hgvs_p": "p.Asp735Tyr",
"transcript": "NM_001347726.2",
"protein_id": "NP_001334655.1",
"transcript_support_level": null,
"aa_start": 735,
"aa_end": null,
"aa_length": 766,
"cds_start": 2203,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 2784,
"cdna_end": null,
"cdna_length": 3185,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.1711G>T",
"hgvs_p": "p.Asp571Tyr",
"transcript": "NM_001347728.2",
"protein_id": "NP_001334657.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 602,
"cds_start": 1711,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 3021,
"cdna_end": null,
"cdna_length": 3422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.1360G>T",
"hgvs_p": "p.Asp454Tyr",
"transcript": "ENST00000678811.1",
"protein_id": "ENSP00000504078.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 485,
"cds_start": 1360,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 1361,
"cdna_end": null,
"cdna_length": 1762,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "n.432G>T",
"hgvs_p": null,
"transcript": "ENST00000490510.6",
"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": 833,
"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": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "n.3003G>T",
"hgvs_p": null,
"transcript": "ENST00000676519.1",
"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": 3392,
"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": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
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}
],
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}