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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: 14-104712493-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=104712493&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 104712493,
"ref": "C",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000392634.9",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INF2",
"gene_hgnc_id": 23791,
"hgvs_c": "c.2550C>G",
"hgvs_p": "p.Thr850Thr",
"transcript": "NM_022489.4",
"protein_id": "NP_071934.3",
"transcript_support_level": null,
"aa_start": 850,
"aa_end": null,
"aa_length": 1249,
"cds_start": 2550,
"cds_end": null,
"cds_length": 3750,
"cdna_start": 2681,
"cdna_end": null,
"cdna_length": 7623,
"mane_select": "ENST00000392634.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INF2",
"gene_hgnc_id": 23791,
"hgvs_c": "c.2550C>G",
"hgvs_p": "p.Thr850Thr",
"transcript": "ENST00000392634.9",
"protein_id": "ENSP00000376410.4",
"transcript_support_level": 5,
"aa_start": 850,
"aa_end": null,
"aa_length": 1249,
"cds_start": 2550,
"cds_end": null,
"cds_length": 3750,
"cdna_start": 2681,
"cdna_end": null,
"cdna_length": 7623,
"mane_select": "NM_022489.4",
"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": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INF2",
"gene_hgnc_id": 23791,
"hgvs_c": "n.2550C>G",
"hgvs_p": null,
"transcript": "ENST00000617571.5",
"protein_id": "ENSP00000483829.2",
"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": 4556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INF2",
"gene_hgnc_id": 23791,
"hgvs_c": "c.2646C>G",
"hgvs_p": "p.Thr882Thr",
"transcript": "ENST00000675207.1",
"protein_id": "ENSP00000502644.1",
"transcript_support_level": null,
"aa_start": 882,
"aa_end": null,
"aa_length": 1281,
"cds_start": 2646,
"cds_end": null,
"cds_length": 3846,
"cdna_start": 2790,
"cdna_end": null,
"cdna_length": 7732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INF2",
"gene_hgnc_id": 23791,
"hgvs_c": "c.2550C>G",
"hgvs_p": "p.Thr850Thr",
"transcript": "NM_001426862.1",
"protein_id": "NP_001413791.1",
"transcript_support_level": null,
"aa_start": 850,
"aa_end": null,
"aa_length": 1268,
"cds_start": 2550,
"cds_end": null,
"cds_length": 3807,
"cdna_start": 2681,
"cdna_end": null,
"cdna_length": 7650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INF2",
"gene_hgnc_id": 23791,
"hgvs_c": "c.2568C>G",
"hgvs_p": "p.Thr856Thr",
"transcript": "ENST00000675980.1",
"protein_id": "ENSP00000502520.1",
"transcript_support_level": null,
"aa_start": 856,
"aa_end": null,
"aa_length": 1255,
"cds_start": 2568,
"cds_end": null,
"cds_length": 3768,
"cdna_start": 2568,
"cdna_end": null,
"cdna_length": 3768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INF2",
"gene_hgnc_id": 23791,
"hgvs_c": "c.2550C>G",
"hgvs_p": "p.Thr850Thr",
"transcript": "ENST00000675481.1",
"protein_id": "ENSP00000502723.1",
"transcript_support_level": null,
"aa_start": 850,
"aa_end": null,
"aa_length": 1250,
"cds_start": 2550,
"cds_end": null,
"cds_length": 3753,
"cdna_start": 2550,
"cdna_end": null,
"cdna_length": 3754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INF2",
"gene_hgnc_id": 23791,
"hgvs_c": "c.2550C>G",
"hgvs_p": "p.Thr850Thr",
"transcript": "NM_001426863.1",
"protein_id": "NP_001413792.1",
"transcript_support_level": null,
"aa_start": 850,
"aa_end": null,
"aa_length": 1249,
"cds_start": 2550,
"cds_end": null,
"cds_length": 3750,
"cdna_start": 3009,
"cdna_end": null,
"cdna_length": 7951,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INF2",
"gene_hgnc_id": 23791,
"hgvs_c": "c.2550C>G",
"hgvs_p": "p.Thr850Thr",
"transcript": "NM_001426864.1",
"protein_id": "NP_001413793.1",
"transcript_support_level": null,
"aa_start": 850,
"aa_end": null,
"aa_length": 1249,
"cds_start": 2550,
"cds_end": null,
"cds_length": 3750,
"cdna_start": 2819,
"cdna_end": null,
"cdna_length": 7761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INF2",
"gene_hgnc_id": 23791,
"hgvs_c": "c.2526C>G",
"hgvs_p": "p.Thr842Thr",
"transcript": "ENST00000675329.1",
"protein_id": "ENSP00000502287.1",
"transcript_support_level": null,
"aa_start": 842,
"aa_end": null,
"aa_length": 1241,
"cds_start": 2526,
"cds_end": null,
"cds_length": 3726,
"cdna_start": 2526,
"cdna_end": null,
"cdna_length": 3726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INF2",
"gene_hgnc_id": 23791,
"hgvs_c": "c.2550C>G",
"hgvs_p": "p.Thr850Thr",
"transcript": "NM_001031714.4",
"protein_id": "NP_001026884.3",
"transcript_support_level": null,
"aa_start": 850,
"aa_end": null,
"aa_length": 1240,
"cds_start": 2550,
"cds_end": null,
"cds_length": 3723,
"cdna_start": 2681,
"cdna_end": null,
"cdna_length": 7566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INF2",
"gene_hgnc_id": 23791,
"hgvs_c": "c.2550C>G",
"hgvs_p": "p.Thr850Thr",
"transcript": "NM_001426865.1",
"protein_id": "NP_001413794.1",
"transcript_support_level": null,
"aa_start": 850,
"aa_end": null,
"aa_length": 1240,
"cds_start": 2550,
"cds_end": null,
"cds_length": 3723,
"cdna_start": 3009,
"cdna_end": null,
"cdna_length": 7894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INF2",
"gene_hgnc_id": 23791,
"hgvs_c": "c.2550C>G",
"hgvs_p": "p.Thr850Thr",
"transcript": "ENST00000330634.11",
"protein_id": "ENSP00000376406.3",
"transcript_support_level": 5,
"aa_start": 850,
"aa_end": null,
"aa_length": 1240,
"cds_start": 2550,
"cds_end": null,
"cds_length": 3723,
"cdna_start": 2693,
"cdna_end": null,
"cdna_length": 7578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INF2",
"gene_hgnc_id": 23791,
"hgvs_c": "c.2550C>G",
"hgvs_p": "p.Thr850Thr",
"transcript": "ENST00000675638.1",
"protein_id": "ENSP00000501647.1",
"transcript_support_level": null,
"aa_start": 850,
"aa_end": null,
"aa_length": 1222,
"cds_start": 2550,
"cds_end": null,
"cds_length": 3669,
"cdna_start": 2550,
"cdna_end": null,
"cdna_length": 7411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INF2",
"gene_hgnc_id": 23791,
"hgvs_c": "c.1800C>G",
"hgvs_p": "p.Thr600Thr",
"transcript": "ENST00000674991.1",
"protein_id": "ENSP00000502004.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 980,
"cds_start": 1800,
"cds_end": null,
"cds_length": 2944,
"cdna_start": 1800,
"cdna_end": null,
"cdna_length": 2944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INF2",
"gene_hgnc_id": 23791,
"hgvs_c": "c.588C>G",
"hgvs_p": "p.Thr196Thr",
"transcript": "ENST00000674631.1",
"protein_id": "ENSP00000502830.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 614,
"cds_start": 588,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 588,
"cdna_end": null,
"cdna_length": 2200,
"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": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INF2",
"gene_hgnc_id": 23791,
"hgvs_c": "n.954C>G",
"hgvs_p": null,
"transcript": "ENST00000252527.8",
"protein_id": "ENSP00000252527.8",
"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": 3050,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INF2",
"gene_hgnc_id": 23791,
"hgvs_c": "n.415C>G",
"hgvs_p": null,
"transcript": "ENST00000480763.2",
"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": 581,
"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": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INF2",
"gene_hgnc_id": 23791,
"hgvs_c": "n.2550C>G",
"hgvs_p": null,
"transcript": "ENST00000674520.1",
"protein_id": "ENSP00000502593.1",
"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": 3689,
"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": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INF2",
"gene_hgnc_id": 23791,
"hgvs_c": "n.*223C>G",
"hgvs_p": null,
"transcript": "ENST00000674662.1",
"protein_id": "ENSP00000501895.1",
"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": 3755,
"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": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INF2",
"gene_hgnc_id": 23791,
"hgvs_c": "n.2550C>G",
"hgvs_p": null,
"transcript": "ENST00000674757.1",
"protein_id": "ENSP00000502202.1",
"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": 3756,
"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": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INF2",
"gene_hgnc_id": 23791,
"hgvs_c": "n.*1954C>G",
"hgvs_p": null,
"transcript": "ENST00000674822.1",
"protein_id": "ENSP00000501552.1",
"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": 3578,
"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": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INF2",
"gene_hgnc_id": 23791,
"hgvs_c": "n.*223C>G",
"hgvs_p": null,
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},
{
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
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"exon_count": 3,
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"gene_symbol": "INF2",
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"transcript": "ENST00000477497.1",
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}
],
"gene_symbol": "INF2",
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"dbsnp": "rs771112980",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8799999952316284,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.88,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.12,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
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"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000392634.9",
"gene_symbol": "INF2",
"hgnc_id": 23791,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2550C>G",
"hgvs_p": "p.Thr850Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}