← Back to variant description
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: 11-61957429-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=61957429&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 61957429,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000378043.9",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEST1",
"gene_hgnc_id": 12703,
"hgvs_c": "c.679T>A",
"hgvs_p": "p.Tyr227Asn",
"transcript": "NM_004183.4",
"protein_id": "NP_004174.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 585,
"cds_start": 679,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 792,
"cdna_end": null,
"cdna_length": 2210,
"mane_select": "ENST00000378043.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEST1",
"gene_hgnc_id": 12703,
"hgvs_c": "c.679T>A",
"hgvs_p": "p.Tyr227Asn",
"transcript": "ENST00000378043.9",
"protein_id": "ENSP00000367282.4",
"transcript_support_level": 1,
"aa_start": 227,
"aa_end": null,
"aa_length": 585,
"cds_start": 679,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 792,
"cdna_end": null,
"cdna_length": 2210,
"mane_select": "NM_004183.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEST1",
"gene_hgnc_id": 12703,
"hgvs_c": "c.499T>A",
"hgvs_p": "p.Tyr167Asn",
"transcript": "ENST00000449131.6",
"protein_id": "ENSP00000399709.2",
"transcript_support_level": 1,
"aa_start": 167,
"aa_end": null,
"aa_length": 604,
"cds_start": 499,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 585,
"cdna_end": null,
"cdna_length": 4267,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEST1",
"gene_hgnc_id": 12703,
"hgvs_c": "c.679T>A",
"hgvs_p": "p.Tyr227Asn",
"transcript": "NM_001440571.1",
"protein_id": "NP_001427500.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 664,
"cds_start": 679,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 792,
"cdna_end": null,
"cdna_length": 3420,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEST1",
"gene_hgnc_id": 12703,
"hgvs_c": "c.679T>A",
"hgvs_p": "p.Tyr227Asn",
"transcript": "NM_001440572.1",
"protein_id": "NP_001427501.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 637,
"cds_start": 679,
"cds_end": null,
"cds_length": 1914,
"cdna_start": 792,
"cdna_end": null,
"cdna_length": 3339,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEST1",
"gene_hgnc_id": 12703,
"hgvs_c": "c.679T>A",
"hgvs_p": "p.Tyr227Asn",
"transcript": "NM_001440573.1",
"protein_id": "NP_001427502.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 613,
"cds_start": 679,
"cds_end": null,
"cds_length": 1842,
"cdna_start": 792,
"cdna_end": null,
"cdna_length": 3267,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEST1",
"gene_hgnc_id": 12703,
"hgvs_c": "c.499T>A",
"hgvs_p": "p.Tyr167Asn",
"transcript": "NM_001139443.3",
"protein_id": "NP_001132915.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 604,
"cds_start": 499,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 604,
"cdna_end": null,
"cdna_length": 3232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEST1",
"gene_hgnc_id": 12703,
"hgvs_c": "c.499T>A",
"hgvs_p": "p.Tyr167Asn",
"transcript": "NM_001440574.1",
"protein_id": "NP_001427503.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 577,
"cds_start": 499,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 604,
"cdna_end": null,
"cdna_length": 3151,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEST1",
"gene_hgnc_id": 12703,
"hgvs_c": "c.361T>A",
"hgvs_p": "p.Tyr121Asn",
"transcript": "NM_001363591.3",
"protein_id": "NP_001350520.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 558,
"cds_start": 361,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 585,
"cdna_end": null,
"cdna_length": 3213,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEST1",
"gene_hgnc_id": 12703,
"hgvs_c": "c.499T>A",
"hgvs_p": "p.Tyr167Asn",
"transcript": "NM_001440575.1",
"protein_id": "NP_001427504.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 553,
"cds_start": 499,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 604,
"cdna_end": null,
"cdna_length": 3079,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEST1",
"gene_hgnc_id": 12703,
"hgvs_c": "c.499T>A",
"hgvs_p": "p.Tyr167Asn",
"transcript": "NM_001440576.1",
"protein_id": "NP_001427505.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 526,
"cds_start": 499,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 604,
"cdna_end": null,
"cdna_length": 2998,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEST1",
"gene_hgnc_id": 12703,
"hgvs_c": "c.499T>A",
"hgvs_p": "p.Tyr167Asn",
"transcript": "NM_001300787.2",
"protein_id": "NP_001287716.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 525,
"cds_start": 499,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 604,
"cdna_end": null,
"cdna_length": 2022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEST1",
"gene_hgnc_id": 12703,
"hgvs_c": "c.499T>A",
"hgvs_p": "p.Tyr167Asn",
"transcript": "NM_001300786.2",
"protein_id": "NP_001287715.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 498,
"cds_start": 499,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 604,
"cdna_end": null,
"cdna_length": 1941,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEST1",
"gene_hgnc_id": 12703,
"hgvs_c": "c.679T>A",
"hgvs_p": "p.Tyr227Asn",
"transcript": "NM_001363592.2",
"protein_id": "NP_001350521.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 435,
"cds_start": 679,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 792,
"cdna_end": null,
"cdna_length": 3623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEST1",
"gene_hgnc_id": 12703,
"hgvs_c": "c.361T>A",
"hgvs_p": "p.Tyr121Asn",
"transcript": "ENST00000526988.1",
"protein_id": "ENSP00000433195.1",
"transcript_support_level": 2,
"aa_start": 121,
"aa_end": null,
"aa_length": 329,
"cds_start": 361,
"cds_end": null,
"cds_length": 990,
"cdna_start": 522,
"cdna_end": null,
"cdna_length": 1263,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEST1",
"gene_hgnc_id": 12703,
"hgvs_c": "c.679T>A",
"hgvs_p": "p.Tyr227Asn",
"transcript": "XM_005274221.5",
"protein_id": "XP_005274278.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 270,
"cds_start": 679,
"cds_end": null,
"cds_length": 813,
"cdna_start": 1322,
"cdna_end": null,
"cdna_length": 4618,
"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": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEST1",
"gene_hgnc_id": 12703,
"hgvs_c": "n.1111T>A",
"hgvs_p": null,
"transcript": "ENST00000524877.5",
"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": 5772,
"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": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEST1",
"gene_hgnc_id": 12703,
"hgvs_c": "n.679T>A",
"hgvs_p": null,
"transcript": "ENST00000524926.5",
"protein_id": "ENSP00000432681.1",
"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": 2404,
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEST1",
"gene_hgnc_id": 12703,
"hgvs_c": "n.602T>A",
"hgvs_p": null,
"transcript": "ENST00000529265.5",
"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": 1421,
"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": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEST1",
"gene_hgnc_id": 12703,
"hgvs_c": "n.792T>A",
"hgvs_p": null,
"transcript": "NR_134580.2",
"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": 2413,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC107984334",
"gene_hgnc_id": null,
"hgvs_c": "n.1265A>T",
"hgvs_p": null,
"transcript": "XR_001748245.2",
"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": 4775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEST1",
"gene_hgnc_id": 12703,
"hgvs_c": "c.-497T>A",
"hgvs_p": null,
"transcript": "NM_001363593.3",
"protein_id": "NP_001350522.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 340,
"cds_start": -4,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "BEST1",
"gene_hgnc_id": 12703,
"hgvs_c": "c.163+1478T>A",
"hgvs_p": null,
"transcript": "ENST00000534553.5",
"protein_id": "ENSP00000431189.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 55,
"cds_start": -4,
"cds_end": null,
"cds_length": 168,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1829,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "BEST1",
"gene_hgnc_id": 12703,
"dbsnp": "rs28941469",
"frequency_reference_population": null,
"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": 0.9919191598892212,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.976,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.7239,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.54,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.819,
"phylop100way_prediction": "Pathogenic",
"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": 19,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP2,PP3_Strong,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 19,
"benign_score": 0,
"pathogenic_score": 19,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP2",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000378043.9",
"gene_symbol": "BEST1",
"hgnc_id": 12703,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.679T>A",
"hgvs_p": "p.Tyr227Asn"
},
{
"score": 14,
"benign_score": 0,
"pathogenic_score": 14,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "XR_001748245.2",
"gene_symbol": "LOC107984334",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1265A>T",
"hgvs_p": null
}
],
"clinvar_disease": "Retinal dystrophy,Vitelliform macular dystrophy 2,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3 O:1",
"phenotype_combined": "Vitelliform macular dystrophy 2|not provided|Retinal dystrophy",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}