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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: 5-43644768-T-TG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=43644768&ref=T&alt=TG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 43644768,
"ref": "T",
"alt": "TG",
"effect": "frameshift_variant",
"transcript": "ENST00000344920.9",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.1259dupG",
"hgvs_p": "p.His421fs",
"transcript": "NM_182977.3",
"protein_id": "NP_892022.2",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 1086,
"cds_start": 1260,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 1428,
"cdna_end": null,
"cdna_length": 6421,
"mane_select": "ENST00000344920.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.1259dupG",
"hgvs_p": "p.His421fs",
"transcript": "ENST00000344920.9",
"protein_id": "ENSP00000343873.4",
"transcript_support_level": 1,
"aa_start": 420,
"aa_end": null,
"aa_length": 1086,
"cds_start": 1260,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 1428,
"cdna_end": null,
"cdna_length": 6421,
"mane_select": "NM_182977.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.1259dupG",
"hgvs_p": "p.His421fs",
"transcript": "ENST00000264663.9",
"protein_id": "ENSP00000264663.5",
"transcript_support_level": 1,
"aa_start": 420,
"aa_end": null,
"aa_length": 1086,
"cds_start": 1260,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 1481,
"cdna_end": null,
"cdna_length": 6483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.1259dupG",
"hgvs_p": "p.His421fs",
"transcript": "NM_012343.4",
"protein_id": "NP_036475.3",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 1086,
"cds_start": 1260,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 1529,
"cdna_end": null,
"cdna_length": 6522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.1259dupG",
"hgvs_p": "p.His421fs",
"transcript": "ENST00000653251.1",
"protein_id": "ENSP00000499281.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 1086,
"cds_start": 1260,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 1495,
"cdna_end": null,
"cdna_length": 4046,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.1259dupG",
"hgvs_p": "p.His421fs",
"transcript": "ENST00000656666.1",
"protein_id": "ENSP00000499249.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 1086,
"cds_start": 1260,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 1517,
"cdna_end": null,
"cdna_length": 3660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.1259dupG",
"hgvs_p": "p.His421fs",
"transcript": "ENST00000662525.1",
"protein_id": "ENSP00000499639.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 1086,
"cds_start": 1260,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 1341,
"cdna_end": null,
"cdna_length": 4422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.1259dupG",
"hgvs_p": "p.His421fs",
"transcript": "ENST00000669601.1",
"protein_id": "ENSP00000499527.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 1086,
"cds_start": 1260,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 1375,
"cdna_end": null,
"cdna_length": 4440,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.1259dupG",
"hgvs_p": "p.His421fs",
"transcript": "ENST00000670904.1",
"protein_id": "ENSP00000499611.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 1086,
"cds_start": 1260,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 1435,
"cdna_end": null,
"cdna_length": 4483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.1259dupG",
"hgvs_p": "p.His421fs",
"transcript": "ENST00000671668.1",
"protein_id": "ENSP00000499494.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 1086,
"cds_start": 1260,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 1535,
"cdna_end": null,
"cdna_length": 4008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.1082dupG",
"hgvs_p": "p.His362fs",
"transcript": "ENST00000654405.1",
"protein_id": "ENSP00000499670.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 1027,
"cds_start": 1083,
"cds_end": null,
"cds_length": 3084,
"cdna_start": 1262,
"cdna_end": null,
"cdna_length": 4331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.866dupG",
"hgvs_p": "p.His290fs",
"transcript": "NM_001331026.2",
"protein_id": "NP_001317955.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 955,
"cds_start": 867,
"cds_end": null,
"cds_length": 2868,
"cdna_start": 1198,
"cdna_end": null,
"cdna_length": 6191,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.866dupG",
"hgvs_p": "p.His290fs",
"transcript": "ENST00000512996.6",
"protein_id": "ENSP00000426343.1",
"transcript_support_level": 5,
"aa_start": 289,
"aa_end": null,
"aa_length": 955,
"cds_start": 867,
"cds_end": null,
"cds_length": 2868,
"cdna_start": 1205,
"cdna_end": null,
"cdna_length": 4288,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.866dupG",
"hgvs_p": "p.His290fs",
"transcript": "ENST00000657172.1",
"protein_id": "ENSP00000499431.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 565,
"cds_start": 867,
"cds_end": null,
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"cdna_start": 1756,
"cdna_end": null,
"cdna_length": 3902,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.1259dupG",
"hgvs_p": "p.His421fs",
"transcript": "ENST00000660752.1",
"protein_id": "ENSP00000499701.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 521,
"cds_start": 1260,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 1445,
"cdna_end": null,
"cdna_length": 3582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.1259dupG",
"hgvs_p": "p.His421fs",
"transcript": "XM_005248274.6",
"protein_id": "XP_005248331.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 1086,
"cds_start": 1260,
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"cdna_start": 1392,
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"cdna_length": 6385,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.1259dupG",
"hgvs_p": "p.His421fs",
"transcript": "XM_011514001.4",
"protein_id": "XP_011512303.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 1086,
"cds_start": 1260,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 2804,
"cdna_end": null,
"cdna_length": 7797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.1259dupG",
"hgvs_p": "p.His421fs",
"transcript": "XM_017009293.3",
"protein_id": "XP_016864782.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 1086,
"cds_start": 1260,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 1388,
"cdna_end": null,
"cdna_length": 6381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.866dupG",
"hgvs_p": "p.His290fs",
"transcript": "XM_006714461.5",
"protein_id": "XP_006714524.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 955,
"cds_start": 867,
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"cdna_start": 1107,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "n.629dupG",
"hgvs_p": null,
"transcript": "ENST00000503651.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "n.27dupG",
"hgvs_p": null,
"transcript": "ENST00000506893.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "n.*565dupG",
"hgvs_p": null,
"transcript": "ENST00000652986.1",
"protein_id": "ENSP00000499801.1",
"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": 4502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "n.*1121dupG",
"hgvs_p": null,
"transcript": "ENST00000654931.1",
"protein_id": "ENSP00000499477.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Glucocorticoid deficiency 4",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}