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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: 6-30892329-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=30892329&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": "DDR1",
"hgnc_id": 2730,
"hgvs_c": "c.886C>T",
"hgvs_p": "p.Arg296Cys",
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_013994.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 10,
"alphamissense_prediction": null,
"alphamissense_score": 0.2787,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.16,
"chr": "6",
"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": 0.7828389406204224,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 913,
"aa_ref": "R",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3836,
"cdna_start": 1120,
"cds_end": null,
"cds_length": 2742,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001297654.2",
"gene_hgnc_id": 2730,
"gene_symbol": "DDR1",
"hgvs_c": "c.886C>T",
"hgvs_p": "p.Arg296Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000376568.8",
"protein_coding": true,
"protein_id": "NP_001284583.1",
"strand": true,
"transcript": "NM_001297654.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 913,
"aa_ref": "R",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3836,
"cdna_start": 1120,
"cds_end": null,
"cds_length": 2742,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000376568.8",
"gene_hgnc_id": 2730,
"gene_symbol": "DDR1",
"hgvs_c": "c.886C>T",
"hgvs_p": "p.Arg296Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001297654.2",
"protein_coding": true,
"protein_id": "ENSP00000365752.3",
"strand": true,
"transcript": "ENST00000376568.8",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 913,
"aa_ref": "R",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3857,
"cdna_start": 1145,
"cds_end": null,
"cds_length": 2742,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000452441.5",
"gene_hgnc_id": 2730,
"gene_symbol": "DDR1",
"hgvs_c": "c.886C>T",
"hgvs_p": "p.Arg296Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000405039.1",
"strand": true,
"transcript": "ENST00000452441.5",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 876,
"aa_ref": "R",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3832,
"cdna_start": 1227,
"cds_end": null,
"cds_length": 2631,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000376567.6",
"gene_hgnc_id": 2730,
"gene_symbol": "DDR1",
"hgvs_c": "c.886C>T",
"hgvs_p": "p.Arg296Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000365751.2",
"strand": true,
"transcript": "ENST00000376567.6",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 876,
"aa_ref": "R",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3820,
"cdna_start": 1219,
"cds_end": null,
"cds_length": 2631,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000376570.8",
"gene_hgnc_id": 2730,
"gene_symbol": "DDR1",
"hgvs_c": "c.886C>T",
"hgvs_p": "p.Arg296Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000365754.4",
"strand": true,
"transcript": "ENST00000376570.8",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 943,
"aa_ref": "R",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3762,
"cdna_start": 956,
"cds_end": null,
"cds_length": 2832,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000908941.1",
"gene_hgnc_id": 2730,
"gene_symbol": "DDR1",
"hgvs_c": "c.886C>T",
"hgvs_p": "p.Arg296Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579000.1",
"strand": true,
"transcript": "ENST00000908941.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 921,
"aa_ref": "R",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3854,
"cdna_start": 1118,
"cds_end": null,
"cds_length": 2766,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000956426.1",
"gene_hgnc_id": 2730,
"gene_symbol": "DDR1",
"hgvs_c": "c.886C>T",
"hgvs_p": "p.Arg296Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626485.1",
"strand": true,
"transcript": "ENST00000956426.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 920,
"aa_ref": "R",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3924,
"cdna_start": 1191,
"cds_end": null,
"cds_length": 2763,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000956424.1",
"gene_hgnc_id": 2730,
"gene_symbol": "DDR1",
"hgvs_c": "c.886C>T",
"hgvs_p": "p.Arg296Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626483.1",
"strand": true,
"transcript": "ENST00000956424.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 919,
"aa_ref": "R",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3712,
"cdna_start": 978,
"cds_end": null,
"cds_length": 2760,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001387892.1",
"gene_hgnc_id": 2730,
"gene_symbol": "DDR1",
"hgvs_c": "c.886C>T",
"hgvs_p": "p.Arg296Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374821.1",
"strand": true,
"transcript": "NM_001387892.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 919,
"aa_ref": "R",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3854,
"cdna_start": 1120,
"cds_end": null,
"cds_length": 2760,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_013994.3",
"gene_hgnc_id": 2730,
"gene_symbol": "DDR1",
"hgvs_c": "c.886C>T",
"hgvs_p": "p.Arg296Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_054700.2",
"strand": true,
"transcript": "NM_013994.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 919,
"aa_ref": "R",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2882,
"cdna_start": 886,
"cds_end": null,
"cds_length": 2760,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000513240.5",
"gene_hgnc_id": 2730,
"gene_symbol": "DDR1",
"hgvs_c": "c.886C>T",
"hgvs_p": "p.Arg296Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000427552.1",
"strand": true,
"transcript": "ENST00000513240.5",
"transcript_support_level": 5
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 913,
"aa_ref": "R",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3800,
"cdna_start": 1084,
"cds_end": null,
"cds_length": 2742,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001387893.1",
"gene_hgnc_id": 2730,
"gene_symbol": "DDR1",
"hgvs_c": "c.886C>T",
"hgvs_p": "p.Arg296Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374822.1",
"strand": true,
"transcript": "NM_001387893.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_length": 913,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3867,
"cdna_start": 1151,
"cds_end": null,
"cds_length": 2742,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001387894.1",
"gene_hgnc_id": 2730,
"gene_symbol": "DDR1",
"hgvs_c": "c.886C>T",
"hgvs_p": "p.Arg296Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374823.1",
"strand": true,
"transcript": "NM_001387894.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 913,
"aa_ref": "R",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3935,
"cdna_start": 1219,
"cds_end": null,
"cds_length": 2742,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001387895.1",
"gene_hgnc_id": 2730,
"gene_symbol": "DDR1",
"hgvs_c": "c.886C>T",
"hgvs_p": "p.Arg296Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374824.1",
"strand": true,
"transcript": "NM_001387895.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 913,
"aa_ref": "R",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3749,
"cdna_start": 1033,
"cds_end": null,
"cds_length": 2742,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001387896.1",
"gene_hgnc_id": 2730,
"gene_symbol": "DDR1",
"hgvs_c": "c.886C>T",
"hgvs_p": "p.Arg296Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374825.1",
"strand": true,
"transcript": "NM_001387896.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 913,
"aa_ref": "R",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3923,
"cdna_start": 1207,
"cds_end": null,
"cds_length": 2742,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001387897.1",
"gene_hgnc_id": 2730,
"gene_symbol": "DDR1",
"hgvs_c": "c.886C>T",
"hgvs_p": "p.Arg296Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374826.1",
"strand": true,
"transcript": "NM_001387897.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 913,
"aa_ref": "R",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3706,
"cdna_start": 990,
"cds_end": null,
"cds_length": 2742,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001387898.1",
"gene_hgnc_id": 2730,
"gene_symbol": "DDR1",
"hgvs_c": "c.886C>T",
"hgvs_p": "p.Arg296Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374827.1",
"strand": true,
"transcript": "NM_001387898.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 913,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4008,
"cdna_start": 1292,
"cds_end": null,
"cds_length": 2742,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001387899.1",
"gene_hgnc_id": 2730,
"gene_symbol": "DDR1",
"hgvs_c": "c.886C>T",
"hgvs_p": "p.Arg296Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374828.1",
"strand": true,
"transcript": "NM_001387899.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_length": 913,
"aa_ref": "R",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3694,
"cdna_start": 978,
"cds_end": null,
"cds_length": 2742,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001387900.1",
"gene_hgnc_id": 2730,
"gene_symbol": "DDR1",
"hgvs_c": "c.886C>T",
"hgvs_p": "p.Arg296Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374829.1",
"strand": true,
"transcript": "NM_001387900.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 913,
"aa_ref": "R",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4105,
"cdna_start": 1389,
"cds_end": null,
"cds_length": 2742,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001387901.1",
"gene_hgnc_id": 2730,
"gene_symbol": "DDR1",
"hgvs_c": "c.886C>T",
"hgvs_p": "p.Arg296Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374830.1",
"strand": true,
"transcript": "NM_001387901.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 913,
"aa_ref": "R",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3879,
"cdna_start": 1163,
"cds_end": null,
"cds_length": 2742,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001387902.1",
"gene_hgnc_id": 2730,
"gene_symbol": "DDR1",
"hgvs_c": "c.886C>T",
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