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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: 16-58672199-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=58672199&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SLC38A7",
"hgnc_id": 25582,
"hgvs_c": "c.928G>A",
"hgvs_p": "p.Val310Met",
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_018231.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 14,
"alphamissense_prediction": null,
"alphamissense_score": 0.8831,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.1,
"chr": "16",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.7764793634414673,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 462,
"aa_ref": "V",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4058,
"cdna_start": 1321,
"cds_end": null,
"cds_length": 1389,
"cds_start": 928,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_018231.3",
"gene_hgnc_id": 25582,
"gene_symbol": "SLC38A7",
"hgvs_c": "c.928G>A",
"hgvs_p": "p.Val310Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000219320.9",
"protein_coding": true,
"protein_id": "NP_060701.1",
"strand": false,
"transcript": "NM_018231.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 462,
"aa_ref": "V",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4058,
"cdna_start": 1321,
"cds_end": null,
"cds_length": 1389,
"cds_start": 928,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000219320.9",
"gene_hgnc_id": 25582,
"gene_symbol": "SLC38A7",
"hgvs_c": "c.928G>A",
"hgvs_p": "p.Val310Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018231.3",
"protein_coding": true,
"protein_id": "ENSP00000219320.3",
"strand": false,
"transcript": "ENST00000219320.9",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 462,
"aa_ref": "V",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4549,
"cdna_start": 1812,
"cds_end": null,
"cds_length": 1389,
"cds_start": 928,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000570101.5",
"gene_hgnc_id": 25582,
"gene_symbol": "SLC38A7",
"hgvs_c": "c.928G>A",
"hgvs_p": "p.Val310Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000454646.1",
"strand": false,
"transcript": "ENST00000570101.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 354,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2867,
"cdna_start": null,
"cds_end": null,
"cds_length": 1065,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000564100.5",
"gene_hgnc_id": 25582,
"gene_symbol": "SLC38A7",
"hgvs_c": "c.883+3741G>A",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000454325.1",
"strand": false,
"transcript": "ENST00000564100.5",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 462,
"aa_ref": "V",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3963,
"cdna_start": 1226,
"cds_end": null,
"cds_length": 1389,
"cds_start": 928,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001369608.1",
"gene_hgnc_id": 25582,
"gene_symbol": "SLC38A7",
"hgvs_c": "c.928G>A",
"hgvs_p": "p.Val310Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356537.1",
"strand": false,
"transcript": "NM_001369608.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 462,
"aa_ref": "V",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3834,
"cdna_start": 1097,
"cds_end": null,
"cds_length": 1389,
"cds_start": 928,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001369609.1",
"gene_hgnc_id": 25582,
"gene_symbol": "SLC38A7",
"hgvs_c": "c.928G>A",
"hgvs_p": "p.Val310Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356538.1",
"strand": false,
"transcript": "NM_001369609.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 462,
"aa_ref": "V",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4157,
"cdna_start": 1420,
"cds_end": null,
"cds_length": 1389,
"cds_start": 928,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001369611.1",
"gene_hgnc_id": 25582,
"gene_symbol": "SLC38A7",
"hgvs_c": "c.928G>A",
"hgvs_p": "p.Val310Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356540.1",
"strand": false,
"transcript": "NM_001369611.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 462,
"aa_ref": "V",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2792,
"cdna_start": 1318,
"cds_end": null,
"cds_length": 1389,
"cds_start": 928,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000873637.1",
"gene_hgnc_id": 25582,
"gene_symbol": "SLC38A7",
"hgvs_c": "c.928G>A",
"hgvs_p": "p.Val310Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543696.1",
"strand": false,
"transcript": "ENST00000873637.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 462,
"aa_ref": "V",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6151,
"cdna_start": 1320,
"cds_end": null,
"cds_length": 1389,
"cds_start": 928,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000934505.1",
"gene_hgnc_id": 25582,
"gene_symbol": "SLC38A7",
"hgvs_c": "c.928G>A",
"hgvs_p": "p.Val310Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604564.1",
"strand": false,
"transcript": "ENST00000934505.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 462,
"aa_ref": "V",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2694,
"cdna_start": 1219,
"cds_end": null,
"cds_length": 1389,
"cds_start": 928,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000934509.1",
"gene_hgnc_id": 25582,
"gene_symbol": "SLC38A7",
"hgvs_c": "c.928G>A",
"hgvs_p": "p.Val310Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604568.1",
"strand": false,
"transcript": "ENST00000934509.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 449,
"aa_ref": "V",
"aa_start": 297,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3218,
"cdna_start": 1760,
"cds_end": null,
"cds_length": 1350,
"cds_start": 889,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000934510.1",
"gene_hgnc_id": 25582,
"gene_symbol": "SLC38A7",
"hgvs_c": "c.889G>A",
"hgvs_p": "p.Val297Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604569.1",
"strand": false,
"transcript": "ENST00000934510.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 432,
"aa_ref": "V",
"aa_start": 280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3967,
"cdna_start": 1230,
"cds_end": null,
"cds_length": 1299,
"cds_start": 838,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000934506.1",
"gene_hgnc_id": 25582,
"gene_symbol": "SLC38A7",
"hgvs_c": "c.838G>A",
"hgvs_p": "p.Val280Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604565.1",
"strand": false,
"transcript": "ENST00000934506.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
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"aa_length": 432,
"aa_ref": "V",
"aa_start": 280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2677,
"cdna_start": 1203,
"cds_end": null,
"cds_length": 1299,
"cds_start": 838,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000934508.1",
"gene_hgnc_id": 25582,
"gene_symbol": "SLC38A7",
"hgvs_c": "c.838G>A",
"hgvs_p": "p.Val280Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604567.1",
"strand": false,
"transcript": "ENST00000934508.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 377,
"aa_ref": "V",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2638,
"cdna_start": 1294,
"cds_end": null,
"cds_length": 1134,
"cds_start": 928,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000873636.1",
"gene_hgnc_id": 25582,
"gene_symbol": "SLC38A7",
"hgvs_c": "c.928G>A",
"hgvs_p": "p.Val310Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543695.1",
"strand": false,
"transcript": "ENST00000873636.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 377,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3034,
"cdna_start": 1815,
"cds_end": null,
"cds_length": 1134,
"cds_start": 928,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000873638.1",
"gene_hgnc_id": 25582,
"gene_symbol": "SLC38A7",
"hgvs_c": "c.928G>A",
"hgvs_p": "p.Val310Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543697.1",
"strand": false,
"transcript": "ENST00000873638.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 373,
"aa_ref": "V",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1437,
"cdna_start": 953,
"cds_end": null,
"cds_length": 1122,
"cds_start": 661,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000564010.5",
"gene_hgnc_id": 25582,
"gene_symbol": "SLC38A7",
"hgvs_c": "c.661G>A",
"hgvs_p": "p.Val221Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000455362.1",
"strand": false,
"transcript": "ENST00000564010.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 354,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3754,
"cdna_start": null,
"cds_end": null,
"cds_length": 1065,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001308384.2",
"gene_hgnc_id": 25582,
"gene_symbol": "SLC38A7",
"hgvs_c": "c.883+3741G>A",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001295313.1",
"strand": false,
"transcript": "NM_001308384.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3655,
"cdna_start": null,
"cds_end": null,
"cds_length": 1065,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001369610.1",
"gene_hgnc_id": 25582,
"gene_symbol": "SLC38A7",
"hgvs_c": "c.883+3741G>A",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356539.1",
"strand": false,
"transcript": "NM_001369610.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 346,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2419,
"cdna_start": null,
"cds_end": null,
"cds_length": 1041,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000934507.1",
"gene_hgnc_id": 25582,
"gene_symbol": "SLC38A7",
"hgvs_c": "c.884-2032G>A",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604566.1",
"strand": false,
"transcript": "ENST00000934507.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 270,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2170,
"cdna_start": null,
"cds_end": null,
"cds_length": 813,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000957363.1",
"gene_hgnc_id": 25582,
"gene_symbol": "SLC38A7",
"hgvs_c": "c.711-4712G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627422.1",
"strand": false,
"transcript": "ENST00000957363.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 208,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2227,
"cdna_start": null,
"cds_end": null,
"cds_length": 627,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000957364.1",
"gene_hgnc_id": 25582,
"gene_symbol": "SLC38A7",
"hgvs_c": "c.470-2032G>A",
"hgvs_p": null,
"intron_rank": 3,
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