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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: 19-4307901-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=4307901&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 4307901,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_024333.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSD1",
"gene_hgnc_id": 13745,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Thr88Met",
"transcript": "NM_024333.3",
"protein_id": "NP_077309.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 496,
"cds_start": 263,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000221856.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024333.3"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSD1",
"gene_hgnc_id": 13745,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Thr88Met",
"transcript": "ENST00000221856.11",
"protein_id": "ENSP00000221856.5",
"transcript_support_level": 1,
"aa_start": 88,
"aa_end": null,
"aa_length": 496,
"cds_start": 263,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024333.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000221856.11"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSD1",
"gene_hgnc_id": 13745,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Thr88Met",
"transcript": "ENST00000911582.1",
"protein_id": "ENSP00000581641.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 516,
"cds_start": 263,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911582.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSD1",
"gene_hgnc_id": 13745,
"hgvs_c": "c.260C>T",
"hgvs_p": "p.Thr87Met",
"transcript": "ENST00000911584.1",
"protein_id": "ENSP00000581643.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 495,
"cds_start": 260,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911584.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSD1",
"gene_hgnc_id": 13745,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Thr88Met",
"transcript": "ENST00000911586.1",
"protein_id": "ENSP00000581645.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 481,
"cds_start": 263,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911586.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSD1",
"gene_hgnc_id": 13745,
"hgvs_c": "c.248C>T",
"hgvs_p": "p.Thr83Met",
"transcript": "ENST00000911587.1",
"protein_id": "ENSP00000581646.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 476,
"cds_start": 248,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911587.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSD1",
"gene_hgnc_id": 13745,
"hgvs_c": "c.185C>T",
"hgvs_p": "p.Thr62Met",
"transcript": "ENST00000965757.1",
"protein_id": "ENSP00000635816.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 470,
"cds_start": 185,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965757.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSD1",
"gene_hgnc_id": 13745,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Thr88Met",
"transcript": "ENST00000911585.1",
"protein_id": "ENSP00000581644.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 463,
"cds_start": 263,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911585.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSD1",
"gene_hgnc_id": 13745,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Thr88Met",
"transcript": "ENST00000859934.1",
"protein_id": "ENSP00000529993.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 439,
"cds_start": 263,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859934.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSD1",
"gene_hgnc_id": 13745,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Thr88Met",
"transcript": "NM_001330429.2",
"protein_id": "NP_001317358.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 437,
"cds_start": 263,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330429.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSD1",
"gene_hgnc_id": 13745,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Thr88Met",
"transcript": "ENST00000597590.5",
"protein_id": "ENSP00000473022.1",
"transcript_support_level": 5,
"aa_start": 88,
"aa_end": null,
"aa_length": 437,
"cds_start": 263,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000597590.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSD1",
"gene_hgnc_id": 13745,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Thr88Met",
"transcript": "ENST00000965758.1",
"protein_id": "ENSP00000635817.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 416,
"cds_start": 263,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965758.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSD1",
"gene_hgnc_id": 13745,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Thr88Met",
"transcript": "ENST00000911583.1",
"protein_id": "ENSP00000581642.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 412,
"cds_start": 263,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911583.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSD1",
"gene_hgnc_id": 13745,
"hgvs_c": "c.191C>T",
"hgvs_p": "p.Thr64Met",
"transcript": "ENST00000597480.1",
"protein_id": "ENSP00000472521.1",
"transcript_support_level": 5,
"aa_start": 64,
"aa_end": null,
"aa_length": 175,
"cds_start": 191,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000597480.1"
},
{
"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": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FSD1",
"gene_hgnc_id": 13745,
"hgvs_c": "c.243+1572C>T",
"hgvs_p": null,
"transcript": "ENST00000911581.1",
"protein_id": "ENSP00000581640.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 462,
"cds_start": null,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911581.1"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FSD1",
"gene_hgnc_id": 13745,
"hgvs_c": "c.126+1689C>T",
"hgvs_p": null,
"transcript": "ENST00000601006.1",
"protein_id": "ENSP00000472060.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 64,
"cds_start": null,
"cds_end": null,
"cds_length": 196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000601006.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSD1",
"gene_hgnc_id": 13745,
"hgvs_c": "n.311C>T",
"hgvs_p": null,
"transcript": "ENST00000599375.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000599375.5"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSD1",
"gene_hgnc_id": 13745,
"hgvs_c": "n.300C>T",
"hgvs_p": null,
"transcript": "ENST00000601678.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000601678.5"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSD1",
"gene_hgnc_id": 13745,
"hgvs_c": "n.310C>T",
"hgvs_p": null,
"transcript": "ENST00000601815.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000601815.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000296069",
"gene_hgnc_id": null,
"hgvs_c": "n.162-1635G>A",
"hgvs_p": null,
"transcript": "ENST00000736024.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000736024.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSD1",
"gene_hgnc_id": 13745,
"hgvs_c": "n.-38C>T",
"hgvs_p": null,
"transcript": "ENST00000598010.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000598010.5"
}
],
"gene_symbol": "FSD1",
"gene_hgnc_id": 13745,
"dbsnp": "rs149694101",
"frequency_reference_population": 0.00064460863,
"hom_count_reference_population": 2,
"allele_count_reference_population": 1040,
"gnomad_exomes_af": 0.000663793,
"gnomad_genomes_af": 0.000460272,
"gnomad_exomes_ac": 970,
"gnomad_genomes_ac": 70,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.051872313022613525,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.063,
"revel_prediction": "Benign",
"alphamissense_score": 0.1222,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.508,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_024333.3",
"gene_symbol": "FSD1",
"hgnc_id": 13745,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Thr88Met"
},
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000736024.1",
"gene_symbol": "ENSG00000296069",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.162-1635G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}