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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: 17-50167716-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=50167716&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 50167716,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_000023.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Arg98Cys",
"transcript": "NM_000023.4",
"protein_id": "NP_000014.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 387,
"cds_start": 292,
"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": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Arg98Cys",
"transcript": "ENST00000262018.8",
"protein_id": "ENSP00000262018.3",
"transcript_support_level": 1,
"aa_start": 98,
"aa_end": null,
"aa_length": 387,
"cds_start": 292,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Arg98Cys",
"transcript": "ENST00000344627.10",
"protein_id": "ENSP00000345522.6",
"transcript_support_level": 1,
"aa_start": 98,
"aa_end": null,
"aa_length": 263,
"cds_start": 292,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.382C>T",
"hgvs_p": "p.Arg128Cys",
"transcript": "ENST00000952408.1",
"protein_id": "ENSP00000622467.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 417,
"cds_start": 382,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Arg98Cys",
"transcript": "ENST00000895793.1",
"protein_id": "ENSP00000565852.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 400,
"cds_start": 292,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Arg98Cys",
"transcript": "ENST00000952409.1",
"protein_id": "ENSP00000622468.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 395,
"cds_start": 292,
"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": "R",
"aa_alt": "C",
"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": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Arg98Cys",
"transcript": "ENST00000895791.1",
"protein_id": "ENSP00000565850.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 387,
"cds_start": 292,
"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": "R",
"aa_alt": "C",
"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": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Arg98Cys",
"transcript": "ENST00000895792.1",
"protein_id": "ENSP00000565851.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 387,
"cds_start": 292,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Arg98Cys",
"transcript": "ENST00000895798.1",
"protein_id": "ENSP00000565857.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 387,
"cds_start": 292,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Arg98Cys",
"transcript": "ENST00000952411.1",
"protein_id": "ENSP00000622470.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 387,
"cds_start": 292,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Arg98Cys",
"transcript": "ENST00000952404.1",
"protein_id": "ENSP00000622463.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 364,
"cds_start": 292,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Arg98Cys",
"transcript": "ENST00000895794.1",
"protein_id": "ENSP00000565853.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 359,
"cds_start": 292,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Arg98Cys",
"transcript": "ENST00000895796.1",
"protein_id": "ENSP00000565855.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 356,
"cds_start": 292,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.172C>T",
"hgvs_p": "p.Arg58Cys",
"transcript": "ENST00000682109.1",
"protein_id": "ENSP00000508041.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 347,
"cds_start": 172,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Arg98Cys",
"transcript": "ENST00000504073.2",
"protein_id": "ENSP00000422030.2",
"transcript_support_level": 5,
"aa_start": 98,
"aa_end": null,
"aa_length": 337,
"cds_start": 292,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.172C>T",
"hgvs_p": "p.Arg58Cys",
"transcript": "ENST00000952405.1",
"protein_id": "ENSP00000622464.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 319,
"cds_start": 172,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Arg98Cys",
"transcript": "NM_001135697.3",
"protein_id": "NP_001129169.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 263,
"cds_start": 292,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.172C>T",
"hgvs_p": "p.Arg58Cys",
"transcript": "ENST00000895795.1",
"protein_id": "ENSP00000565854.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 223,
"cds_start": 172,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.97-231C>T",
"hgvs_p": null,
"transcript": "ENST00000952406.1",
"protein_id": "ENSP00000622465.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 315,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.158-211C>T",
"hgvs_p": null,
"transcript": "ENST00000895797.1",
"protein_id": "ENSP00000565856.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 218,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.154-231C>T",
"hgvs_p": null,
"transcript": "ENST00000952407.1",
"protein_id": "ENSP00000622466.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 210,
"cds_start": null,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952407.1"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.97-231C>T",
"hgvs_p": null,
"transcript": "ENST00000952403.1",
"protein_id": "ENSP00000622462.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 191,
"cds_start": null,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952403.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
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"computational_score_selected": 0.5151495337486267,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.659,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.1441,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.25,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 0.334,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"mitotip_score": null,
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"acmg_classification": "Pathogenic",
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"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
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"PM5",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_000023.4",
"gene_symbol": "SGCA",
"hgnc_id": 10805,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Arg98Cys"
},
{
"score": 8,
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"pathogenic_score": 8,
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"verdict": "Likely_pathogenic",
"transcript": "ENST00000751801.1",
"gene_symbol": "ENSG00000253730",
"hgnc_id": null,
"effects": [
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],
"inheritance_mode": "",
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}
],
"clinvar_disease": "Autosomal recessive limb-girdle muscular dystrophy,Autosomal recessive limb-girdle muscular dystrophy type 2D,Muscular dystrophy,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:5 LP:3",
"phenotype_combined": "Autosomal recessive limb-girdle muscular dystrophy type 2D|not provided|Muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}