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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: 3-47510195-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=47510195&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 47510195,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001031703.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.193G>A",
"hgvs_p": "p.Gly65Arg",
"transcript": "NM_001031703.3",
"protein_id": "NP_001026873.2",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 266,
"cds_start": 193,
"cds_end": null,
"cds_length": 801,
"cdna_start": 315,
"cdna_end": null,
"cdna_length": 1352,
"mane_select": "ENST00000296149.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.193G>A",
"hgvs_p": "p.Gly65Arg",
"transcript": "ENST00000296149.9",
"protein_id": "ENSP00000296149.4",
"transcript_support_level": 1,
"aa_start": 65,
"aa_end": null,
"aa_length": 266,
"cds_start": 193,
"cds_end": null,
"cds_length": 801,
"cdna_start": 315,
"cdna_end": null,
"cdna_length": 1352,
"mane_select": "NM_001031703.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.193G>A",
"hgvs_p": "p.Gly65Arg",
"transcript": "NM_001424210.1",
"protein_id": "NP_001411139.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 274,
"cds_start": 193,
"cds_end": null,
"cds_length": 825,
"cdna_start": 315,
"cdna_end": null,
"cdna_length": 1376,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.184G>A",
"hgvs_p": "p.Gly62Arg",
"transcript": "NM_001424211.1",
"protein_id": "NP_001411140.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 263,
"cds_start": 184,
"cds_end": null,
"cds_length": 792,
"cdna_start": 287,
"cdna_end": null,
"cdna_length": 1324,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.184G>A",
"hgvs_p": "p.Gly62Arg",
"transcript": "NM_001424212.1",
"protein_id": "NP_001411141.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 263,
"cds_start": 184,
"cds_end": null,
"cds_length": 792,
"cdna_start": 549,
"cdna_end": null,
"cdna_length": 1586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.184G>A",
"hgvs_p": "p.Gly62Arg",
"transcript": "NM_001424213.1",
"protein_id": "NP_001411142.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 263,
"cds_start": 184,
"cds_end": null,
"cds_length": 792,
"cdna_start": 318,
"cdna_end": null,
"cdna_length": 1355,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.142G>A",
"hgvs_p": "p.Gly48Arg",
"transcript": "NM_001424214.1",
"protein_id": "NP_001411143.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 249,
"cds_start": 142,
"cds_end": null,
"cds_length": 750,
"cdna_start": 294,
"cdna_end": null,
"cdna_length": 1331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.193G>A",
"hgvs_p": "p.Gly65Arg",
"transcript": "NM_001424215.1",
"protein_id": "NP_001411144.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 217,
"cds_start": 193,
"cds_end": null,
"cds_length": 654,
"cdna_start": 315,
"cdna_end": null,
"cdna_length": 1205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.193G>A",
"hgvs_p": "p.Gly65Arg",
"transcript": "NM_001424231.1",
"protein_id": "NP_001411160.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 108,
"cds_start": 193,
"cds_end": null,
"cds_length": 327,
"cdna_start": 315,
"cdna_end": null,
"cdna_length": 1003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.193G>A",
"hgvs_p": "p.Gly65Arg",
"transcript": "XM_011533851.4",
"protein_id": "XP_011532153.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 306,
"cds_start": 193,
"cds_end": null,
"cds_length": 921,
"cdna_start": 315,
"cdna_end": null,
"cdna_length": 1083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.184G>A",
"hgvs_p": "p.Gly62Arg",
"transcript": "XM_011533852.4",
"protein_id": "XP_011532154.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 303,
"cds_start": 184,
"cds_end": null,
"cds_length": 912,
"cdna_start": 650,
"cdna_end": null,
"cdna_length": 1418,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.142G>A",
"hgvs_p": "p.Gly48Arg",
"transcript": "XM_011533853.4",
"protein_id": "XP_011532155.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 289,
"cds_start": 142,
"cds_end": null,
"cds_length": 870,
"cdna_start": 294,
"cdna_end": null,
"cdna_length": 1062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.184G>A",
"hgvs_p": "p.Gly62Arg",
"transcript": "XM_047448388.1",
"protein_id": "XP_047304344.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 263,
"cds_start": 184,
"cds_end": null,
"cds_length": 792,
"cdna_start": 636,
"cdna_end": null,
"cdna_length": 1673,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "n.-27G>A",
"hgvs_p": null,
"transcript": "ENST00000445044.5",
"protein_id": "ENSP00000394673.1",
"transcript_support_level": 3,
"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": 1011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "n.139G>A",
"hgvs_p": null,
"transcript": "ENST00000461208.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "n.314G>A",
"hgvs_p": null,
"transcript": "ENST00000483205.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "n.312G>A",
"hgvs_p": null,
"transcript": "ENST00000485029.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "n.315G>A",
"hgvs_p": null,
"transcript": "NR_188162.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1386,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.-27G>A",
"hgvs_p": null,
"transcript": "NM_001363957.1",
"protein_id": "NP_001350886.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 193,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.-27G>A",
"hgvs_p": null,
"transcript": "NM_001424220.1",
"protein_id": "NP_001411149.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 193,
"cds_start": -4,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.-134G>A",
"hgvs_p": null,
"transcript": "NM_001424222.1",
"protein_id": "NP_001411151.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 193,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 1459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.-27G>A",
"hgvs_p": null,
"transcript": "NM_001424223.1",
"protein_id": "NP_001411152.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 193,
"cds_start": -4,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.-27G>A",
"hgvs_p": null,
"transcript": "NM_001424224.1",
"protein_id": "NP_001411153.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 193,
"cds_start": -4,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1299,
"mane_select": null,
"mane_plus": null,
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"phylop100way_score": 3.506,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001031703.3",
"gene_symbol": "ELP6",
"hgnc_id": 25976,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.193G>A",
"hgvs_p": "p.Gly65Arg"
}
],
"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
}