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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: 17-50175349-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=50175349&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 50175349,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000023.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.1076C>A",
"hgvs_p": "p.Thr359Asn",
"transcript": "NM_000023.4",
"protein_id": "NP_000014.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 387,
"cds_start": 1076,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000262018.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000023.4"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.1076C>A",
"hgvs_p": "p.Thr359Asn",
"transcript": "ENST00000262018.8",
"protein_id": "ENSP00000262018.3",
"transcript_support_level": 1,
"aa_start": 359,
"aa_end": null,
"aa_length": 387,
"cds_start": 1076,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000023.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262018.8"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.704C>A",
"hgvs_p": "p.Thr235Asn",
"transcript": "ENST00000344627.10",
"protein_id": "ENSP00000345522.6",
"transcript_support_level": 1,
"aa_start": 235,
"aa_end": null,
"aa_length": 263,
"cds_start": 704,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344627.10"
},
{
"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": "ENSG00000253730",
"gene_hgnc_id": null,
"hgvs_c": "n.548-3172G>T",
"hgvs_p": null,
"transcript": "ENST00000504307.4",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000504307.4"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.1166C>A",
"hgvs_p": "p.Thr389Asn",
"transcript": "ENST00000952408.1",
"protein_id": "ENSP00000622467.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 417,
"cds_start": 1166,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952408.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.1115C>A",
"hgvs_p": "p.Thr372Asn",
"transcript": "ENST00000895793.1",
"protein_id": "ENSP00000565852.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 400,
"cds_start": 1115,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895793.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.1100C>A",
"hgvs_p": "p.Thr367Asn",
"transcript": "ENST00000952409.1",
"protein_id": "ENSP00000622468.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 395,
"cds_start": 1100,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952409.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.1076C>A",
"hgvs_p": "p.Thr359Asn",
"transcript": "ENST00000895791.1",
"protein_id": "ENSP00000565850.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 387,
"cds_start": 1076,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895791.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.1076C>A",
"hgvs_p": "p.Thr359Asn",
"transcript": "ENST00000895792.1",
"protein_id": "ENSP00000565851.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 387,
"cds_start": 1076,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895792.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.1076C>A",
"hgvs_p": "p.Thr359Asn",
"transcript": "ENST00000895798.1",
"protein_id": "ENSP00000565857.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 387,
"cds_start": 1076,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895798.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.1076C>A",
"hgvs_p": "p.Thr359Asn",
"transcript": "ENST00000952411.1",
"protein_id": "ENSP00000622470.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 387,
"cds_start": 1076,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952411.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.1007C>A",
"hgvs_p": "p.Thr336Asn",
"transcript": "ENST00000952404.1",
"protein_id": "ENSP00000622463.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 364,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952404.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.992C>A",
"hgvs_p": "p.Thr331Asn",
"transcript": "ENST00000895794.1",
"protein_id": "ENSP00000565853.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 359,
"cds_start": 992,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895794.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.983C>A",
"hgvs_p": "p.Thr328Asn",
"transcript": "ENST00000895796.1",
"protein_id": "ENSP00000565855.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 356,
"cds_start": 983,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895796.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.956C>A",
"hgvs_p": "p.Thr319Asn",
"transcript": "ENST00000682109.1",
"protein_id": "ENSP00000508041.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 347,
"cds_start": 956,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682109.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.926C>A",
"hgvs_p": "p.Thr309Asn",
"transcript": "ENST00000504073.2",
"protein_id": "ENSP00000422030.2",
"transcript_support_level": 5,
"aa_start": 309,
"aa_end": null,
"aa_length": 337,
"cds_start": 926,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000504073.2"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.872C>A",
"hgvs_p": "p.Thr291Asn",
"transcript": "ENST00000952405.1",
"protein_id": "ENSP00000622464.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 319,
"cds_start": 872,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952405.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.860C>A",
"hgvs_p": "p.Thr287Asn",
"transcript": "ENST00000952406.1",
"protein_id": "ENSP00000622465.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 315,
"cds_start": 860,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952406.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.704C>A",
"hgvs_p": "p.Thr235Asn",
"transcript": "NM_001135697.3",
"protein_id": "NP_001129169.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 263,
"cds_start": 704,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135697.3"
},
{
"aa_ref": "T",
"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": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.584C>A",
"hgvs_p": "p.Thr195Asn",
"transcript": "ENST00000895795.1",
"protein_id": "ENSP00000565854.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 223,
"cds_start": 584,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895795.1"
},
{
"aa_ref": "T",
"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": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.569C>A",
"hgvs_p": "p.Thr190Asn",
"transcript": "ENST00000895797.1",
"protein_id": "ENSP00000565856.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 218,
"cds_start": 569,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895797.1"
},
{
"aa_ref": "T",
"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": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.545C>A",
"hgvs_p": "p.Thr182Asn",
"transcript": "ENST00000952407.1",
"protein_id": "ENSP00000622466.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 210,
"cds_start": 545,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.2199999988079071,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Pathogenic",
"alphamissense_score": 0.6577,
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"bayesdelnoaf_score": 0.09,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.082,
"phylop100way_prediction": "Uncertain_significance",
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"spliceai_max_prediction": "Uncertain_significance",
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"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_000023.4",
"gene_symbol": "SGCA",
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"effects": [
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"inheritance_mode": "AR",
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{
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"transcript": "ENST00000504307.4",
"gene_symbol": "ENSG00000253730",
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"effects": [
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],
"inheritance_mode": "",
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],
"clinvar_disease": "Autosomal recessive limb-girdle muscular dystrophy type 2D,Inborn genetic diseases,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:5",
"phenotype_combined": "not provided|Autosomal recessive limb-girdle muscular dystrophy type 2D|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}