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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: 15-74180153-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=74180153&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 74180153,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000395105.9",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRA6",
"gene_hgnc_id": 30650,
"hgvs_c": "c.1931C>T",
"hgvs_p": "p.Thr644Met",
"transcript": "NM_022369.4",
"protein_id": "NP_071764.3",
"transcript_support_level": null,
"aa_start": 644,
"aa_end": null,
"aa_length": 667,
"cds_start": 1931,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 2021,
"cdna_end": null,
"cdna_length": 2708,
"mane_select": "ENST00000395105.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRA6",
"gene_hgnc_id": 30650,
"hgvs_c": "c.1931C>T",
"hgvs_p": "p.Thr644Met",
"transcript": "ENST00000395105.9",
"protein_id": "ENSP00000378537.4",
"transcript_support_level": 1,
"aa_start": 644,
"aa_end": null,
"aa_length": 667,
"cds_start": 1931,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 2021,
"cdna_end": null,
"cdna_length": 2708,
"mane_select": "NM_022369.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRA6",
"gene_hgnc_id": 30650,
"hgvs_c": "c.2048C>T",
"hgvs_p": "p.Thr683Met",
"transcript": "ENST00000563965.5",
"protein_id": "ENSP00000456609.1",
"transcript_support_level": 1,
"aa_start": 683,
"aa_end": null,
"aa_length": 706,
"cds_start": 2048,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 2387,
"cdna_end": null,
"cdna_length": 2565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRA6",
"gene_hgnc_id": 30650,
"hgvs_c": "c.1904C>T",
"hgvs_p": "p.Thr635Met",
"transcript": "ENST00000423167.6",
"protein_id": "ENSP00000413012.2",
"transcript_support_level": 1,
"aa_start": 635,
"aa_end": null,
"aa_length": 658,
"cds_start": 1904,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 2089,
"cdna_end": null,
"cdna_length": 2776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRA6",
"gene_hgnc_id": 30650,
"hgvs_c": "c.2048C>T",
"hgvs_p": "p.Thr683Met",
"transcript": "NM_001199042.2",
"protein_id": "NP_001185971.1",
"transcript_support_level": null,
"aa_start": 683,
"aa_end": null,
"aa_length": 706,
"cds_start": 2048,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 2316,
"cdna_end": null,
"cdna_length": 3003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRA6",
"gene_hgnc_id": 30650,
"hgvs_c": "c.2042C>T",
"hgvs_p": "p.Thr681Met",
"transcript": "NM_001199040.2",
"protein_id": "NP_001185969.1",
"transcript_support_level": null,
"aa_start": 681,
"aa_end": null,
"aa_length": 704,
"cds_start": 2042,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 2293,
"cdna_end": null,
"cdna_length": 2980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRA6",
"gene_hgnc_id": 30650,
"hgvs_c": "c.2042C>T",
"hgvs_p": "p.Thr681Met",
"transcript": "ENST00000535552.5",
"protein_id": "ENSP00000440238.1",
"transcript_support_level": 2,
"aa_start": 681,
"aa_end": null,
"aa_length": 704,
"cds_start": 2042,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 2293,
"cdna_end": null,
"cdna_length": 2631,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRA6",
"gene_hgnc_id": 30650,
"hgvs_c": "c.1976C>T",
"hgvs_p": "p.Thr659Met",
"transcript": "NM_001199041.2",
"protein_id": "NP_001185970.1",
"transcript_support_level": null,
"aa_start": 659,
"aa_end": null,
"aa_length": 682,
"cds_start": 1976,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 2304,
"cdna_end": null,
"cdna_length": 2991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRA6",
"gene_hgnc_id": 30650,
"hgvs_c": "c.1976C>T",
"hgvs_p": "p.Thr659Met",
"transcript": "ENST00000574278.5",
"protein_id": "ENSP00000458827.1",
"transcript_support_level": 2,
"aa_start": 659,
"aa_end": null,
"aa_length": 682,
"cds_start": 1976,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 2304,
"cdna_end": null,
"cdna_length": 2455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRA6",
"gene_hgnc_id": 30650,
"hgvs_c": "c.1931C>T",
"hgvs_p": "p.Thr644Met",
"transcript": "NM_001142617.2",
"protein_id": "NP_001136089.1",
"transcript_support_level": null,
"aa_start": 644,
"aa_end": null,
"aa_length": 667,
"cds_start": 1931,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 2136,
"cdna_end": null,
"cdna_length": 2823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRA6",
"gene_hgnc_id": 30650,
"hgvs_c": "c.1931C>T",
"hgvs_p": "p.Thr644Met",
"transcript": "NM_001142618.2",
"protein_id": "NP_001136090.1",
"transcript_support_level": null,
"aa_start": 644,
"aa_end": null,
"aa_length": 667,
"cds_start": 1931,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 2001,
"cdna_end": null,
"cdna_length": 2688,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
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"gene_symbol": "STRA6",
"gene_hgnc_id": 30650,
"hgvs_c": "c.1931C>T",
"hgvs_p": "p.Thr644Met",
"transcript": "NM_001437994.1",
"protein_id": "NP_001424923.1",
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"cds_start": 1931,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
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"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
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"gene_symbol": "STRA6",
"gene_hgnc_id": 30650,
"hgvs_c": "c.1931C>T",
"hgvs_p": "p.Thr644Met",
"transcript": "ENST00000323940.9",
"protein_id": "ENSP00000326085.5",
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"cds_start": 1931,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
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"exon_count": 19,
"intron_rank": null,
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"gene_symbol": "STRA6",
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"hgvs_c": "c.1931C>T",
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"transcript": "ENST00000449139.6",
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},
{
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"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "STRA6",
"gene_hgnc_id": 30650,
"hgvs_c": "c.1931C>T",
"hgvs_p": "p.Thr644Met",
"transcript": "ENST00000616000.4",
"protein_id": "ENSP00000479112.1",
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"aa_start": 644,
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"cds_start": 1931,
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"cdna_start": 2159,
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"biotype": null,
"feature": null
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 18,
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"exon_count": 18,
"intron_rank": null,
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"gene_symbol": "STRA6",
"gene_hgnc_id": 30650,
"hgvs_c": "c.1907C>T",
"hgvs_p": "p.Thr636Met",
"transcript": "ENST00000416286.7",
"protein_id": "ENSP00000400403.3",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
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"gene_symbol": "STRA6",
"gene_hgnc_id": 30650,
"hgvs_c": "c.1904C>T",
"hgvs_p": "p.Thr635Met",
"transcript": "NM_001142619.2",
"protein_id": "NP_001136091.1",
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRA6",
"gene_hgnc_id": 30650,
"hgvs_c": "c.785C>T",
"hgvs_p": "p.Thr262Met",
"transcript": "ENST00000572785.1",
"protein_id": "ENSP00000459546.1",
"transcript_support_level": 3,
"aa_start": 262,
"aa_end": null,
"aa_length": 264,
"cds_start": 785,
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"cdna_start": 786,
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"mane_select": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 19,
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"intron_rank": null,
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"gene_symbol": "STRA6",
"gene_hgnc_id": 30650,
"hgvs_c": "c.1979C>T",
"hgvs_p": "p.Thr660Met",
"transcript": "XM_017022478.2",
"protein_id": "XP_016877967.1",
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},
{
"aa_ref": "T",
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"protein_coding": true,
"strand": false,
"consequences": [
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],
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"exon_count": 19,
"intron_rank": null,
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"gene_symbol": "STRA6",
"gene_hgnc_id": 30650,
"hgvs_c": "c.1931C>T",
"hgvs_p": "p.Thr644Met",
"transcript": "XM_017022479.2",
"protein_id": "XP_016877968.1",
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"aa_end": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRA6",
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"hgvs_c": "n.1640C>T",
"hgvs_p": null,
"transcript": "ENST00000545137.5",
"protein_id": null,
"transcript_support_level": 2,
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"aa_end": null,
"aa_length": null,
"cds_start": -4,
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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": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRA6",
"gene_hgnc_id": 30650,
"hgvs_c": "n.2203C>T",
"hgvs_p": null,
"transcript": "ENST00000574439.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "STRA6",
"gene_hgnc_id": 30650,
"dbsnp": "rs118203960",
"frequency_reference_population": 0.0000192082,
"hom_count_reference_population": 0,
"allele_count_reference_population": 31,
"gnomad_exomes_af": 0.000017788,
"gnomad_genomes_af": 0.0000328437,
"gnomad_exomes_ac": 26,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9135017395019531,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.967,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.2249,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.41,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.133,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Moderate,PP5_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PP3_Moderate",
"PP5_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000395105.9",
"gene_symbol": "STRA6",
"hgnc_id": 30650,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1931C>T",
"hgvs_p": "p.Thr644Met"
}
],
"clinvar_disease": "Matthew-Wood syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Matthew-Wood syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}