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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: 4-76268698-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=76268698&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 76268698,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001136570.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "H",
"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": "FAM47E",
"gene_hgnc_id": 34343,
"hgvs_c": "c.599T>A",
"hgvs_p": "p.Leu200His",
"transcript": "NM_001136570.3",
"protein_id": "NP_001130042.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 393,
"cds_start": 599,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 625,
"cdna_end": null,
"cdna_length": 1533,
"mane_select": "ENST00000424749.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001136570.3"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": true,
"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": "FAM47E",
"gene_hgnc_id": 34343,
"hgvs_c": "c.599T>A",
"hgvs_p": "p.Leu200His",
"transcript": "ENST00000424749.7",
"protein_id": "ENSP00000409423.2",
"transcript_support_level": 5,
"aa_start": 200,
"aa_end": null,
"aa_length": 393,
"cds_start": 599,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 625,
"cdna_end": null,
"cdna_length": 1533,
"mane_select": "NM_001136570.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424749.7"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM47E-STBD1",
"gene_hgnc_id": 44667,
"hgvs_c": "c.599T>A",
"hgvs_p": "p.Leu200His",
"transcript": "ENST00000515604.5",
"protein_id": "ENSP00000422067.1",
"transcript_support_level": 2,
"aa_start": 200,
"aa_end": null,
"aa_length": 351,
"cds_start": 599,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 625,
"cdna_end": null,
"cdna_length": 3029,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000515604.5"
},
{
"aa_ref": "L",
"aa_alt": "H",
"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": "FAM47E",
"gene_hgnc_id": 34343,
"hgvs_c": "c.599T>A",
"hgvs_p": "p.Leu200His",
"transcript": "ENST00000853410.1",
"protein_id": "ENSP00000523469.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 408,
"cds_start": 599,
"cds_end": null,
"cds_length": 1227,
"cdna_start": 757,
"cdna_end": null,
"cdna_length": 2221,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853410.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM47E-STBD1",
"gene_hgnc_id": 44667,
"hgvs_c": "c.599T>A",
"hgvs_p": "p.Leu200His",
"transcript": "NM_001242939.2",
"protein_id": "NP_001229868.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 351,
"cds_start": 599,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 625,
"cdna_end": null,
"cdna_length": 3039,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242939.2"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM47E",
"gene_hgnc_id": 34343,
"hgvs_c": "c.599T>A",
"hgvs_p": "p.Leu200His",
"transcript": "ENST00000946092.1",
"protein_id": "ENSP00000616151.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 341,
"cds_start": 599,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 606,
"cdna_end": null,
"cdna_length": 1327,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946092.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM47E",
"gene_hgnc_id": 34343,
"hgvs_c": "c.599T>A",
"hgvs_p": "p.Leu200His",
"transcript": "ENST00000946090.1",
"protein_id": "ENSP00000616149.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 326,
"cds_start": 599,
"cds_end": null,
"cds_length": 981,
"cdna_start": 637,
"cdna_end": null,
"cdna_length": 1331,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946090.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM47E",
"gene_hgnc_id": 34343,
"hgvs_c": "c.599T>A",
"hgvs_p": "p.Leu200His",
"transcript": "ENST00000853411.1",
"protein_id": "ENSP00000523470.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 315,
"cds_start": 599,
"cds_end": null,
"cds_length": 948,
"cdna_start": 623,
"cdna_end": null,
"cdna_length": 1305,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853411.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"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": "FAM47E",
"gene_hgnc_id": 34343,
"hgvs_c": "c.260T>A",
"hgvs_p": "p.Leu87His",
"transcript": "NM_001242936.1",
"protein_id": "NP_001229865.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 295,
"cds_start": 260,
"cds_end": null,
"cds_length": 888,
"cdna_start": 674,
"cdna_end": null,
"cdna_length": 1627,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242936.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"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": "FAM47E",
"gene_hgnc_id": 34343,
"hgvs_c": "c.260T>A",
"hgvs_p": "p.Leu87His",
"transcript": "ENST00000510197.5",
"protein_id": "ENSP00000422262.1",
"transcript_support_level": 2,
"aa_start": 87,
"aa_end": null,
"aa_length": 295,
"cds_start": 260,
"cds_end": null,
"cds_length": 888,
"cdna_start": 674,
"cdna_end": null,
"cdna_length": 1624,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000510197.5"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM47E",
"gene_hgnc_id": 34343,
"hgvs_c": "c.599T>A",
"hgvs_p": "p.Leu200His",
"transcript": "ENST00000946091.1",
"protein_id": "ENSP00000616150.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 274,
"cds_start": 599,
"cds_end": null,
"cds_length": 825,
"cdna_start": 608,
"cdna_end": null,
"cdna_length": 1159,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946091.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM47E-STBD1",
"gene_hgnc_id": 44667,
"hgvs_c": "c.71T>A",
"hgvs_p": "p.Leu24His",
"transcript": "ENST00000514140.1",
"protein_id": "ENSP00000423044.2",
"transcript_support_level": 2,
"aa_start": 24,
"aa_end": null,
"aa_length": 191,
"cds_start": 71,
"cds_end": null,
"cds_length": 576,
"cdna_start": 71,
"cdna_end": null,
"cdna_length": 2532,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000514140.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM47E",
"gene_hgnc_id": 34343,
"hgvs_c": "c.95T>A",
"hgvs_p": "p.Leu32His",
"transcript": "ENST00000502320.2",
"protein_id": "ENSP00000490159.1",
"transcript_support_level": 2,
"aa_start": 32,
"aa_end": null,
"aa_length": 181,
"cds_start": 95,
"cds_end": null,
"cds_length": 546,
"cdna_start": 267,
"cdna_end": null,
"cdna_length": 6249,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000502320.2"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM47E",
"gene_hgnc_id": 34343,
"hgvs_c": "c.329T>A",
"hgvs_p": "p.Leu110His",
"transcript": "ENST00000512895.5",
"protein_id": "ENSP00000422559.1",
"transcript_support_level": 4,
"aa_start": 110,
"aa_end": null,
"aa_length": 132,
"cds_start": 329,
"cds_end": null,
"cds_length": 400,
"cdna_start": 500,
"cdna_end": null,
"cdna_length": 571,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000512895.5"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM47E",
"gene_hgnc_id": 34343,
"hgvs_c": "c.95T>A",
"hgvs_p": "p.Leu32His",
"transcript": "ENST00000510328.5",
"protein_id": "ENSP00000489801.1",
"transcript_support_level": 2,
"aa_start": 32,
"aa_end": null,
"aa_length": 129,
"cds_start": 95,
"cds_end": null,
"cds_length": 390,
"cdna_start": 300,
"cdna_end": null,
"cdna_length": 1002,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000510328.5"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM47E",
"gene_hgnc_id": 34343,
"hgvs_c": "c.248T>A",
"hgvs_p": "p.Leu83His",
"transcript": "ENST00000606246.1",
"protein_id": "ENSP00000476166.1",
"transcript_support_level": 2,
"aa_start": 83,
"aa_end": null,
"aa_length": 123,
"cds_start": 248,
"cds_end": null,
"cds_length": 372,
"cdna_start": 250,
"cdna_end": null,
"cdna_length": 463,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000606246.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM47E-STBD1",
"gene_hgnc_id": 44667,
"hgvs_c": "n.*91T>A",
"hgvs_p": null,
"transcript": "ENST00000509377.1",
"protein_id": "ENSP00000425528.2",
"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": 1484,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000509377.1"
},
{
"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": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM47E",
"gene_hgnc_id": 34343,
"hgvs_c": "n.1193T>A",
"hgvs_p": null,
"transcript": "ENST00000606550.1",
"protein_id": null,
"transcript_support_level": 6,
"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": 2109,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000606550.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM47E-STBD1",
"gene_hgnc_id": 44667,
"hgvs_c": "n.*91T>A",
"hgvs_p": null,
"transcript": "ENST00000509377.1",
"protein_id": "ENSP00000425528.2",
"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": 1484,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000509377.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FAM47E-STBD1",
"gene_hgnc_id": 44667,
"hgvs_c": "n.*52+4855T>A",
"hgvs_p": null,
"transcript": "ENST00000514365.5",
"protein_id": "ENSP00000424458.1",
"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": 1465,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000514365.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FAM47E-STBD1",
"gene_hgnc_id": 44667,
"hgvs_c": "n.*53-2870T>A",
"hgvs_p": null,
"transcript": "ENST00000651133.1",
"protein_id": "ENSP00000498232.1",
"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": 2388,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000651133.1"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000287401",
"gene_hgnc_id": null,
"hgvs_c": "n.278-6446A>T",
"hgvs_p": null,
"transcript": "ENST00000670253.1",
"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": 1889,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000670253.1"
}
],
"gene_symbol": "FAM47E",
"gene_hgnc_id": 34343,
"dbsnp": "rs1478634489",
"frequency_reference_population": 0.0000035734809,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000357348,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10644480586051941,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.118,
"revel_prediction": "Benign",
"alphamissense_score": 0.1331,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.015,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001136570.3",
"gene_symbol": "FAM47E",
"hgnc_id": 34343,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.599T>A",
"hgvs_p": "p.Leu200His"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001242939.2",
"gene_symbol": "FAM47E-STBD1",
"hgnc_id": 44667,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.599T>A",
"hgvs_p": "p.Leu200His"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000670253.1",
"gene_symbol": "ENSG00000287401",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.278-6446A>T",
"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
}