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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: 3-129671077-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=129671077&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": "TMCC1",
"hgnc_id": 29116,
"hgvs_c": "c.764G>A",
"hgvs_p": "p.Arg255Gln",
"inheritance_mode": "",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_001017395.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 15,
"alphamissense_prediction": null,
"alphamissense_score": 0.6117,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.16,
"chr": "3",
"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": 0.8164616823196411,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 653,
"aa_ref": "R",
"aa_start": 255,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6303,
"cdna_start": 1416,
"cds_end": null,
"cds_length": 1962,
"cds_start": 764,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001017395.5",
"gene_hgnc_id": 29116,
"gene_symbol": "TMCC1",
"hgvs_c": "c.764G>A",
"hgvs_p": "p.Arg255Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000393238.8",
"protein_coding": true,
"protein_id": "NP_001017395.2",
"strand": false,
"transcript": "NM_001017395.5",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 653,
"aa_ref": "R",
"aa_start": 255,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6303,
"cdna_start": 1416,
"cds_end": null,
"cds_length": 1962,
"cds_start": 764,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000393238.8",
"gene_hgnc_id": 29116,
"gene_symbol": "TMCC1",
"hgvs_c": "c.764G>A",
"hgvs_p": "p.Arg255Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001017395.5",
"protein_coding": true,
"protein_id": "ENSP00000376930.3",
"strand": false,
"transcript": "ENST00000393238.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 329,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5631,
"cdna_start": null,
"cds_end": null,
"cds_length": 990,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000432054.6",
"gene_hgnc_id": 29116,
"gene_symbol": "TMCC1",
"hgvs_c": "c.-209G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000404711.2",
"strand": false,
"transcript": "ENST00000432054.6",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 653,
"aa_ref": "R",
"aa_start": 255,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6466,
"cdna_start": 1579,
"cds_end": null,
"cds_length": 1962,
"cds_start": 764,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001349263.2",
"gene_hgnc_id": 29116,
"gene_symbol": "TMCC1",
"hgvs_c": "c.764G>A",
"hgvs_p": "p.Arg255Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336192.1",
"strand": false,
"transcript": "NM_001349263.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 653,
"aa_ref": "R",
"aa_start": 255,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6306,
"cdna_start": 1419,
"cds_end": null,
"cds_length": 1962,
"cds_start": 764,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001349264.2",
"gene_hgnc_id": 29116,
"gene_symbol": "TMCC1",
"hgvs_c": "c.764G>A",
"hgvs_p": "p.Arg255Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336193.1",
"strand": false,
"transcript": "NM_001349264.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 653,
"aa_ref": "R",
"aa_start": 255,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6299,
"cdna_start": 1412,
"cds_end": null,
"cds_length": 1962,
"cds_start": 764,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001349265.2",
"gene_hgnc_id": 29116,
"gene_symbol": "TMCC1",
"hgvs_c": "c.764G>A",
"hgvs_p": "p.Arg255Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336194.1",
"strand": false,
"transcript": "NM_001349265.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 653,
"aa_ref": "R",
"aa_start": 255,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6462,
"cdna_start": 1575,
"cds_end": null,
"cds_length": 1962,
"cds_start": 764,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001349266.2",
"gene_hgnc_id": 29116,
"gene_symbol": "TMCC1",
"hgvs_c": "c.764G>A",
"hgvs_p": "p.Arg255Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336195.1",
"strand": false,
"transcript": "NM_001349266.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 653,
"aa_ref": "R",
"aa_start": 255,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6052,
"cdna_start": 1165,
"cds_end": null,
"cds_length": 1962,
"cds_start": 764,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001349268.2",
"gene_hgnc_id": 29116,
"gene_symbol": "TMCC1",
"hgvs_c": "c.764G>A",
"hgvs_p": "p.Arg255Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336197.1",
"strand": false,
"transcript": "NM_001349268.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 653,
"aa_ref": "R",
"aa_start": 255,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5580,
"cdna_start": 1602,
"cds_end": null,
"cds_length": 1962,
"cds_start": 764,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000858270.1",
"gene_hgnc_id": 29116,
"gene_symbol": "TMCC1",
"hgvs_c": "c.764G>A",
"hgvs_p": "p.Arg255Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528329.1",
"strand": false,
"transcript": "ENST00000858270.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 653,
"aa_ref": "R",
"aa_start": 255,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5087,
"cdna_start": 1089,
"cds_end": null,
"cds_length": 1962,
"cds_start": 764,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000858271.1",
"gene_hgnc_id": 29116,
"gene_symbol": "TMCC1",
"hgvs_c": "c.764G>A",
"hgvs_p": "p.Arg255Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528330.1",
"strand": false,
"transcript": "ENST00000858271.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3776,
"cdna_start": 1646,
"cds_end": null,
"cds_length": 1962,
"cds_start": 764,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000858272.1",
"gene_hgnc_id": 29116,
"gene_symbol": "TMCC1",
"hgvs_c": "c.764G>A",
"hgvs_p": "p.Arg255Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528331.1",
"strand": false,
"transcript": "ENST00000858272.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3510,
"cdna_start": 1380,
"cds_end": null,
"cds_length": 1962,
"cds_start": 764,
"consequences": [
"missense_variant"
],
"exon_count": 7,
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"feature": "ENST00000858273.1",
"gene_hgnc_id": 29116,
"gene_symbol": "TMCC1",
"hgvs_c": "c.764G>A",
"hgvs_p": "p.Arg255Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528332.1",
"strand": false,
"transcript": "ENST00000858273.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": 1329,
"cds_end": null,
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"consequences": [
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],
"exon_count": 6,
"exon_rank": 4,
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"feature": "ENST00000858274.1",
"gene_hgnc_id": 29116,
"gene_symbol": "TMCC1",
"hgvs_c": "c.764G>A",
"hgvs_p": "p.Arg255Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528333.1",
"strand": false,
"transcript": "ENST00000858274.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3435,
"cdna_start": 1305,
"cds_end": null,
"cds_length": 1962,
"cds_start": 764,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000858275.1",
"gene_hgnc_id": 29116,
"gene_symbol": "TMCC1",
"hgvs_c": "c.764G>A",
"hgvs_p": "p.Arg255Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528334.1",
"strand": false,
"transcript": "ENST00000858275.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 2367,
"cds_end": null,
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"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000858276.1",
"gene_hgnc_id": 29116,
"gene_symbol": "TMCC1",
"hgvs_c": "c.764G>A",
"hgvs_p": "p.Arg255Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528335.1",
"strand": false,
"transcript": "ENST00000858276.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5853,
"cdna_start": 966,
"cds_end": null,
"cds_length": 1962,
"cds_start": 764,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000915954.1",
"gene_hgnc_id": 29116,
"gene_symbol": "TMCC1",
"hgvs_c": "c.764G>A",
"hgvs_p": "p.Arg255Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586013.1",
"strand": false,
"transcript": "ENST00000915954.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3509,
"cdna_start": 1379,
"cds_end": null,
"cds_length": 1962,
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"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000915955.1",
"gene_hgnc_id": 29116,
"gene_symbol": "TMCC1",
"hgvs_c": "c.764G>A",
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"mane_plus": null,
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"protein_coding": true,
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"strand": false,
"transcript": "ENST00000915955.1",
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},
{
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"cds_end": null,
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"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000915956.1",
"gene_hgnc_id": 29116,
"gene_symbol": "TMCC1",
"hgvs_c": "c.764G>A",
"hgvs_p": "p.Arg255Gln",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000586015.1",
"strand": false,
"transcript": "ENST00000915956.1",
"transcript_support_level": null
},
{
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"cdna_start": 1176,
"cds_end": null,
"cds_length": 1962,
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"consequences": [
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],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000915957.1",
"gene_hgnc_id": 29116,
"gene_symbol": "TMCC1",
"hgvs_c": "c.764G>A",
"hgvs_p": "p.Arg255Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586016.1",
"strand": false,
"transcript": "ENST00000915957.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_ref": "R",
"aa_start": 255,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3638,
"cdna_start": 1508,
"cds_end": null,
"cds_length": 1962,
"cds_start": 764,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000915958.1",
"gene_hgnc_id": 29116,
"gene_symbol": "TMCC1",
"hgvs_c": "c.764G>A",
"hgvs_p": "p.Arg255Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586017.1",
"strand": false,
"transcript": "ENST00000915958.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 653,
"aa_ref": "R",
"aa_start": 255,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3538,
"cdna_start": 1570,
"cds_end": null,
"cds_length": 1962,
"cds_start": 764,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000915959.1",
"gene_hgnc_id": 29116,
"gene_symbol": "TMCC1",
"hgvs_c": "c.764G>A",
"hgvs_p": "p.Arg255Gln",
"intron_rank": null,
"intron_rank_end": null,
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}