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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: 5-137940304-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=137940304&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 137940304,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001385994.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13B",
"gene_hgnc_id": 1335,
"hgvs_c": "c.2735G>A",
"hgvs_p": "p.Arg912Lys",
"transcript": "NM_001385994.1",
"protein_id": "NP_001372923.1",
"transcript_support_level": null,
"aa_start": 912,
"aa_end": null,
"aa_length": 937,
"cds_start": 2735,
"cds_end": null,
"cds_length": 2814,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000689681.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385994.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13B",
"gene_hgnc_id": 1335,
"hgvs_c": "c.2735G>A",
"hgvs_p": "p.Arg912Lys",
"transcript": "ENST00000689681.1",
"protein_id": "ENSP00000509788.1",
"transcript_support_level": null,
"aa_start": 912,
"aa_end": null,
"aa_length": 937,
"cds_start": 2735,
"cds_end": null,
"cds_length": 2814,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001385994.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000689681.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13B",
"gene_hgnc_id": 1335,
"hgvs_c": "c.2669G>A",
"hgvs_p": "p.Arg890Lys",
"transcript": "ENST00000033079.7",
"protein_id": "ENSP00000033079.3",
"transcript_support_level": 1,
"aa_start": 890,
"aa_end": null,
"aa_length": 915,
"cds_start": 2669,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000033079.7"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13B",
"gene_hgnc_id": 1335,
"hgvs_c": "c.2585G>A",
"hgvs_p": "p.Arg862Lys",
"transcript": "ENST00000420893.6",
"protein_id": "ENSP00000388521.2",
"transcript_support_level": 1,
"aa_start": 862,
"aa_end": null,
"aa_length": 887,
"cds_start": 2585,
"cds_end": null,
"cds_length": 2664,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000420893.6"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13B",
"gene_hgnc_id": 1335,
"hgvs_c": "c.2297G>A",
"hgvs_p": "p.Arg766Lys",
"transcript": "ENST00000425075.6",
"protein_id": "ENSP00000394669.2",
"transcript_support_level": 1,
"aa_start": 766,
"aa_end": null,
"aa_length": 791,
"cds_start": 2297,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425075.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKD2L2",
"gene_hgnc_id": 9012,
"hgvs_c": "c.*157C>T",
"hgvs_p": null,
"transcript": "ENST00000290431.5",
"protein_id": "ENSP00000290431.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 613,
"cds_start": null,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000290431.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKD2L2",
"gene_hgnc_id": 9012,
"hgvs_c": "c.*526C>T",
"hgvs_p": null,
"transcript": "ENST00000508638.5",
"protein_id": "ENSP00000423382.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 523,
"cds_start": null,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000508638.5"
},
{
"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": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PKD2L2",
"gene_hgnc_id": 9012,
"hgvs_c": "c.*18-2080C>T",
"hgvs_p": null,
"transcript": "NM_001300921.2",
"protein_id": "NP_001287850.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 624,
"cds_start": null,
"cds_end": null,
"cds_length": 1875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000508883.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300921.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PKD2L2",
"gene_hgnc_id": 9012,
"hgvs_c": "c.*18-2080C>T",
"hgvs_p": null,
"transcript": "ENST00000508883.6",
"protein_id": "ENSP00000424725.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 624,
"cds_start": null,
"cds_end": null,
"cds_length": 1875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001300921.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000508883.6"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13B",
"gene_hgnc_id": 1335,
"hgvs_c": "c.2735G>A",
"hgvs_p": "p.Arg912Lys",
"transcript": "ENST00000956470.1",
"protein_id": "ENSP00000626529.1",
"transcript_support_level": null,
"aa_start": 912,
"aa_end": null,
"aa_length": 937,
"cds_start": 2735,
"cds_end": null,
"cds_length": 2814,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956470.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13B",
"gene_hgnc_id": 1335,
"hgvs_c": "c.2669G>A",
"hgvs_p": "p.Arg890Lys",
"transcript": "NM_001385921.1",
"protein_id": "NP_001372850.1",
"transcript_support_level": null,
"aa_start": 890,
"aa_end": null,
"aa_length": 915,
"cds_start": 2669,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385921.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13B",
"gene_hgnc_id": 1335,
"hgvs_c": "c.2669G>A",
"hgvs_p": "p.Arg890Lys",
"transcript": "NM_016603.4",
"protein_id": "NP_057687.2",
"transcript_support_level": null,
"aa_start": 890,
"aa_end": null,
"aa_length": 915,
"cds_start": 2669,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016603.4"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13B",
"gene_hgnc_id": 1335,
"hgvs_c": "c.2669G>A",
"hgvs_p": "p.Arg890Lys",
"transcript": "ENST00000874971.1",
"protein_id": "ENSP00000545030.1",
"transcript_support_level": null,
"aa_start": 890,
"aa_end": null,
"aa_length": 915,
"cds_start": 2669,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874971.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13B",
"gene_hgnc_id": 1335,
"hgvs_c": "c.2669G>A",
"hgvs_p": "p.Arg890Lys",
"transcript": "ENST00000874972.1",
"protein_id": "ENSP00000545031.1",
"transcript_support_level": null,
"aa_start": 890,
"aa_end": null,
"aa_length": 915,
"cds_start": 2669,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874972.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13B",
"gene_hgnc_id": 1335,
"hgvs_c": "c.2669G>A",
"hgvs_p": "p.Arg890Lys",
"transcript": "ENST00000921477.1",
"protein_id": "ENSP00000591536.1",
"transcript_support_level": null,
"aa_start": 890,
"aa_end": null,
"aa_length": 915,
"cds_start": 2669,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921477.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13B",
"gene_hgnc_id": 1335,
"hgvs_c": "c.2669G>A",
"hgvs_p": "p.Arg890Lys",
"transcript": "ENST00000956471.1",
"protein_id": "ENSP00000626530.1",
"transcript_support_level": null,
"aa_start": 890,
"aa_end": null,
"aa_length": 915,
"cds_start": 2669,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956471.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13B",
"gene_hgnc_id": 1335,
"hgvs_c": "c.2666G>A",
"hgvs_p": "p.Arg889Lys",
"transcript": "ENST00000874970.1",
"protein_id": "ENSP00000545029.1",
"transcript_support_level": null,
"aa_start": 889,
"aa_end": null,
"aa_length": 914,
"cds_start": 2666,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874970.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13B",
"gene_hgnc_id": 1335,
"hgvs_c": "c.2651G>A",
"hgvs_p": "p.Arg884Lys",
"transcript": "NM_001385868.1",
"protein_id": "NP_001372797.1",
"transcript_support_level": null,
"aa_start": 884,
"aa_end": null,
"aa_length": 909,
"cds_start": 2651,
"cds_end": null,
"cds_length": 2730,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385868.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13B",
"gene_hgnc_id": 1335,
"hgvs_c": "c.2651G>A",
"hgvs_p": "p.Arg884Lys",
"transcript": "NM_001385980.1",
"protein_id": "NP_001372909.1",
"transcript_support_level": null,
"aa_start": 884,
"aa_end": null,
"aa_length": 909,
"cds_start": 2651,
"cds_end": null,
"cds_length": 2730,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385980.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13B",
"gene_hgnc_id": 1335,
"hgvs_c": "c.2585G>A",
"hgvs_p": "p.Arg862Lys",
"transcript": "NM_001101800.3",
"protein_id": "NP_001095270.1",
"transcript_support_level": null,
"aa_start": 862,
"aa_end": null,
"aa_length": 887,
"cds_start": 2585,
"cds_end": null,
"cds_length": 2664,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001101800.3"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13B",
"gene_hgnc_id": 1335,
"hgvs_c": "c.2585G>A",
"hgvs_p": "p.Arg862Lys",
"transcript": "NM_001385867.1",
"protein_id": "NP_001372796.1",
"transcript_support_level": null,
"aa_start": 862,
"aa_end": null,
"aa_length": 887,
"cds_start": 2585,
"cds_end": null,
"cds_length": 2664,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385867.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13B",
"gene_hgnc_id": 1335,
"hgvs_c": "c.2579G>A",
"hgvs_p": "p.Arg860Lys",
"transcript": "NM_001385874.1",
"protein_id": "NP_001372803.1",
"transcript_support_level": null,
"aa_start": 860,
"aa_end": null,
"aa_length": 885,
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"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001385994.1",
"gene_symbol": "FAM13B",
"hgnc_id": 1335,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2735G>A",
"hgvs_p": "p.Arg912Lys"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_014386.4",
"gene_symbol": "PKD2L2",
"hgnc_id": 9012,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*157C>T",
"hgvs_p": null
}
],
"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
}