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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: X-154420037-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=154420037&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 154420037,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000601016.6",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFAZZIN",
"gene_hgnc_id": 11577,
"hgvs_c": "c.589G>A",
"hgvs_p": "p.Gly197Arg",
"transcript": "NM_000116.5",
"protein_id": "NP_000107.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 292,
"cds_start": 589,
"cds_end": null,
"cds_length": 879,
"cdna_start": 894,
"cdna_end": null,
"cdna_length": 1906,
"mane_select": "ENST00000601016.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFAZZIN",
"gene_hgnc_id": 11577,
"hgvs_c": "c.589G>A",
"hgvs_p": "p.Gly197Arg",
"transcript": "ENST00000601016.6",
"protein_id": "ENSP00000469981.1",
"transcript_support_level": 1,
"aa_start": 197,
"aa_end": null,
"aa_length": 292,
"cds_start": 589,
"cds_end": null,
"cds_length": 879,
"cdna_start": 894,
"cdna_end": null,
"cdna_length": 1906,
"mane_select": "NM_000116.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFAZZIN",
"gene_hgnc_id": 11577,
"hgvs_c": "c.553G>A",
"hgvs_p": "p.Gly185Arg",
"transcript": "ENST00000475699.6",
"protein_id": "ENSP00000419854.3",
"transcript_support_level": 1,
"aa_start": 185,
"aa_end": null,
"aa_length": 280,
"cds_start": 553,
"cds_end": null,
"cds_length": 843,
"cdna_start": 844,
"cdna_end": null,
"cdna_length": 1632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "TAFAZZIN",
"gene_hgnc_id": 11577,
"hgvs_c": "c.382G>A",
"hgvs_p": "p.Gly128Arg",
"transcript": "ENST00000369776.8",
"protein_id": "ENSP00000358791.4",
"transcript_support_level": 1,
"aa_start": 128,
"aa_end": null,
"aa_length": 262,
"cds_start": 382,
"cds_end": null,
"cds_length": 789,
"cdna_start": 467,
"cdna_end": null,
"cdna_length": 1596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFAZZIN",
"gene_hgnc_id": 11577,
"hgvs_c": "c.499G>A",
"hgvs_p": "p.Gly167Arg",
"transcript": "ENST00000612460.5",
"protein_id": "ENSP00000481037.1",
"transcript_support_level": 1,
"aa_start": 167,
"aa_end": null,
"aa_length": 262,
"cds_start": 499,
"cds_end": null,
"cds_length": 789,
"cdna_start": 804,
"cdna_end": null,
"cdna_length": 1790,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "TAFAZZIN",
"gene_hgnc_id": 11577,
"hgvs_c": "c.457G>A",
"hgvs_p": "p.Gly153Arg",
"transcript": "ENST00000613002.4",
"protein_id": "ENSP00000478154.1",
"transcript_support_level": 1,
"aa_start": 153,
"aa_end": null,
"aa_length": 248,
"cds_start": 457,
"cds_end": null,
"cds_length": 747,
"cdna_start": 760,
"cdna_end": null,
"cdna_length": 1485,
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFAZZIN",
"gene_hgnc_id": 11577,
"hgvs_c": "n.471G>A",
"hgvs_p": null,
"transcript": "ENST00000483674.3",
"protein_id": null,
"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": 1483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFAZZIN",
"gene_hgnc_id": 11577,
"hgvs_c": "c.643G>A",
"hgvs_p": "p.Gly215Arg",
"transcript": "NM_001440856.1",
"protein_id": "NP_001427785.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 310,
"cds_start": 643,
"cds_end": null,
"cds_length": 933,
"cdna_start": 948,
"cdna_end": null,
"cdna_length": 1960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFAZZIN",
"gene_hgnc_id": 11577,
"hgvs_c": "c.601G>A",
"hgvs_p": "p.Gly201Arg",
"transcript": "NM_001303465.2",
"protein_id": "NP_001290394.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 296,
"cds_start": 601,
"cds_end": null,
"cds_length": 891,
"cdna_start": 906,
"cdna_end": null,
"cdna_length": 1918,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFAZZIN",
"gene_hgnc_id": 11577,
"hgvs_c": "c.601G>A",
"hgvs_p": "p.Gly201Arg",
"transcript": "ENST00000616020.5",
"protein_id": "ENSP00000483636.2",
"transcript_support_level": 5,
"aa_start": 201,
"aa_end": null,
"aa_length": 296,
"cds_start": 601,
"cds_end": null,
"cds_length": 891,
"cdna_start": 601,
"cdna_end": null,
"cdna_length": 891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFAZZIN",
"gene_hgnc_id": 11577,
"hgvs_c": "c.553G>A",
"hgvs_p": "p.Gly185Arg",
"transcript": "NM_001410698.1",
"protein_id": "NP_001397627.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 280,
"cds_start": 553,
"cds_end": null,
"cds_length": 843,
"cdna_start": 858,
"cdna_end": null,
"cdna_length": 1870,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFAZZIN",
"gene_hgnc_id": 11577,
"hgvs_c": "c.547G>A",
"hgvs_p": "p.Gly183Arg",
"transcript": "NM_181312.4",
"protein_id": "NP_851829.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 278,
"cds_start": 547,
"cds_end": null,
"cds_length": 837,
"cdna_start": 852,
"cdna_end": null,
"cdna_length": 1864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFAZZIN",
"gene_hgnc_id": 11577,
"hgvs_c": "c.547G>A",
"hgvs_p": "p.Gly183Arg",
"transcript": "ENST00000612012.5",
"protein_id": "ENSP00000482070.2",
"transcript_support_level": 5,
"aa_start": 183,
"aa_end": null,
"aa_length": 278,
"cds_start": 547,
"cds_end": null,
"cds_length": 837,
"cdna_start": 741,
"cdna_end": null,
"cdna_length": 1230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "TAFAZZIN",
"gene_hgnc_id": 11577,
"hgvs_c": "c.511G>A",
"hgvs_p": "p.Gly171Arg",
"transcript": "NM_001440857.1",
"protein_id": "NP_001427786.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 266,
"cds_start": 511,
"cds_end": null,
"cds_length": 801,
"cdna_start": 816,
"cdna_end": null,
"cdna_length": 1828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFAZZIN",
"gene_hgnc_id": 11577,
"hgvs_c": "c.508G>A",
"hgvs_p": "p.Gly170Arg",
"transcript": "ENST00000652390.1",
"protein_id": "ENSP00000498858.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 265,
"cds_start": 508,
"cds_end": null,
"cds_length": 798,
"cdna_start": 508,
"cdna_end": null,
"cdna_length": 1102,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFAZZIN",
"gene_hgnc_id": 11577,
"hgvs_c": "c.499G>A",
"hgvs_p": "p.Gly167Arg",
"transcript": "NM_181311.4",
"protein_id": "NP_851828.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 262,
"cds_start": 499,
"cds_end": null,
"cds_length": 789,
"cdna_start": 804,
"cdna_end": null,
"cdna_length": 1816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "TAFAZZIN",
"gene_hgnc_id": 11577,
"hgvs_c": "c.457G>A",
"hgvs_p": "p.Gly153Arg",
"transcript": "NM_181313.4",
"protein_id": "NP_851830.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 248,
"cds_start": 457,
"cds_end": null,
"cds_length": 747,
"cdna_start": 762,
"cdna_end": null,
"cdna_length": 1774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFAZZIN",
"gene_hgnc_id": 11577,
"hgvs_c": "c.382G>A",
"hgvs_p": "p.Gly128Arg",
"transcript": "ENST00000652358.1",
"protein_id": "ENSP00000498464.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 223,
"cds_start": 382,
"cds_end": null,
"cds_length": 672,
"cdna_start": 493,
"cdna_end": null,
"cdna_length": 832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "TAFAZZIN",
"gene_hgnc_id": 11577,
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Gly126Arg",
"transcript": "NM_001440858.1",
"protein_id": "NP_001427787.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 221,
"cds_start": 376,
"cds_end": null,
"cds_length": 666,
"cdna_start": 681,
"cdna_end": null,
"cdna_length": 1693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "TAFAZZIN",
"gene_hgnc_id": 11577,
"hgvs_c": "c.271G>A",
"hgvs_p": "p.Gly91Arg",
"transcript": "ENST00000652354.1",
"protein_id": "ENSP00000498734.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 186,
"cds_start": 271,
"cds_end": null,
"cds_length": 561,
"cdna_start": 457,
"cdna_end": null,
"cdna_length": 1469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFAZZIN",
"gene_hgnc_id": 11577,
"hgvs_c": "c.496G>A",
"hgvs_p": "p.Gly166Arg",
"transcript": "ENST00000439735.2",
"protein_id": "ENSP00000398193.1",
"transcript_support_level": 5,
"aa_start": 166,
"aa_end": null,
"aa_length": 183,
"cds_start": 496,
"cds_end": null,
"cds_length": 553,
"cdna_start": 510,
"cdna_end": null,
"cdna_length": 567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "TAFAZZIN",
"gene_hgnc_id": 11577,
"hgvs_c": "c.202G>A",
"hgvs_p": "p.Gly68Arg",
"transcript": "ENST00000652644.1",
"protein_id": "ENSP00000498496.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 163,
"cds_start": 202,
"cds_end": null,
"cds_length": 492,
"cdna_start": 202,
"cdna_end": null,
"cdna_length": 980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFAZZIN",
"gene_hgnc_id": 11577,
"hgvs_c": "c.511G>A",
"hgvs_p": "p.Gly171Arg",
"transcript": "XM_006724837.2",
"protein_id": "XP_006724900.1",
"transcript_support_level": null,
"aa_start": 171,
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{
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}
],
"gene_symbol": "TAFAZZIN",
"gene_hgnc_id": 11577,
"dbsnp": "rs132630277",
"frequency_reference_population": 9.106738e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 9.10674e-7,
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"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9913228750228882,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.14000000059604645,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.927,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9992,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.81,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.36,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.14,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
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"acmg_score": 16,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Strong,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 16,
"benign_score": 0,
"pathogenic_score": 16,
"criteria": [
"PM2",
"PM5",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000601016.6",
"gene_symbol": "TAFAZZIN",
"hgnc_id": 11577,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.589G>A",
"hgvs_p": "p.Gly197Arg"
}
],
"clinvar_disease": "3-Methylglutaconic aciduria type 2,TAFAZZIN-related disorder,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:4 LP:1",
"phenotype_combined": "3-Methylglutaconic aciduria type 2|TAFAZZIN-related disorder|not provided",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}