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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: 1-11018836-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=11018836&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP2",
"PP3_Moderate",
"PP5"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TARDBP",
"hgnc_id": 11571,
"hgvs_c": "c.506A>G",
"hgvs_p": "p.Asp169Gly",
"inheritance_mode": "AD",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_007375.4",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP2,PP3_Moderate,PP5",
"acmg_score": 6,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9429,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.4,
"chr": "1",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Amyotrophic lateral sclerosis type 10",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "O:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9036322832107544,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 414,
"aa_ref": "D",
"aa_start": 169,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4185,
"cdna_start": 608,
"cds_end": null,
"cds_length": 1245,
"cds_start": 506,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_007375.4",
"gene_hgnc_id": 11571,
"gene_symbol": "TARDBP",
"hgvs_c": "c.506A>G",
"hgvs_p": "p.Asp169Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000240185.8",
"protein_coding": true,
"protein_id": "NP_031401.1",
"strand": true,
"transcript": "NM_007375.4",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 414,
"aa_ref": "D",
"aa_start": 169,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4185,
"cdna_start": 608,
"cds_end": null,
"cds_length": 1245,
"cds_start": 506,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000240185.8",
"gene_hgnc_id": 11571,
"gene_symbol": "TARDBP",
"hgvs_c": "c.506A>G",
"hgvs_p": "p.Asp169Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_007375.4",
"protein_coding": true,
"protein_id": "ENSP00000240185.4",
"strand": true,
"transcript": "ENST00000240185.8",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 269,
"aa_ref": "D",
"aa_start": 169,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 810,
"cdna_start": 506,
"cds_end": null,
"cds_length": 810,
"cds_start": 506,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000649624.1",
"gene_hgnc_id": 11571,
"gene_symbol": "TARDBP",
"hgvs_c": "c.506A>G",
"hgvs_p": "p.Asp169Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497327.1",
"strand": true,
"transcript": "ENST00000649624.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 414,
"aa_ref": "D",
"aa_start": 169,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2269,
"cdna_start": 575,
"cds_end": null,
"cds_length": 1245,
"cds_start": 506,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000639083.1",
"gene_hgnc_id": 11571,
"gene_symbol": "TARDBP",
"hgvs_c": "c.506A>G",
"hgvs_p": "p.Asp169Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000491203.1",
"strand": true,
"transcript": "ENST00000639083.1",
"transcript_support_level": 5
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 414,
"aa_ref": "D",
"aa_start": 169,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2719,
"cdna_start": 591,
"cds_end": null,
"cds_length": 1245,
"cds_start": 506,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000881691.1",
"gene_hgnc_id": 11571,
"gene_symbol": "TARDBP",
"hgvs_c": "c.506A>G",
"hgvs_p": "p.Asp169Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551750.1",
"strand": true,
"transcript": "ENST00000881691.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 414,
"aa_ref": "D",
"aa_start": 169,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6043,
"cdna_start": 1542,
"cds_end": null,
"cds_length": 1245,
"cds_start": 506,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000913574.1",
"gene_hgnc_id": 11571,
"gene_symbol": "TARDBP",
"hgvs_c": "c.506A>G",
"hgvs_p": "p.Asp169Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583633.1",
"strand": true,
"transcript": "ENST00000913574.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 414,
"aa_ref": "D",
"aa_start": 169,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2842,
"cdna_start": 712,
"cds_end": null,
"cds_length": 1245,
"cds_start": 506,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000913575.1",
"gene_hgnc_id": 11571,
"gene_symbol": "TARDBP",
"hgvs_c": "c.506A>G",
"hgvs_p": "p.Asp169Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583634.1",
"strand": true,
"transcript": "ENST00000913575.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 414,
"aa_ref": "D",
"aa_start": 169,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2954,
"cdna_start": 824,
"cds_end": null,
"cds_length": 1245,
"cds_start": 506,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000913577.1",
"gene_hgnc_id": 11571,
"gene_symbol": "TARDBP",
"hgvs_c": "c.506A>G",
"hgvs_p": "p.Asp169Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583636.1",
"strand": true,
"transcript": "ENST00000913577.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 414,
"aa_ref": "D",
"aa_start": 169,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3324,
"cdna_start": 1200,
"cds_end": null,
"cds_length": 1245,
"cds_start": 506,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000958690.1",
"gene_hgnc_id": 11571,
"gene_symbol": "TARDBP",
"hgvs_c": "c.506A>G",
"hgvs_p": "p.Asp169Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628749.1",
"strand": true,
"transcript": "ENST00000958690.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 414,
"aa_ref": "D",
"aa_start": 169,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2756,
"cdna_start": 634,
"cds_end": null,
"cds_length": 1245,
"cds_start": 506,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000958691.1",
"gene_hgnc_id": 11571,
"gene_symbol": "TARDBP",
"hgvs_c": "c.506A>G",
"hgvs_p": "p.Asp169Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628750.1",
"strand": true,
"transcript": "ENST00000958691.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 357,
"aa_ref": "D",
"aa_start": 169,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3531,
"cdna_start": 1574,
"cds_end": null,
"cds_length": 1074,
"cds_start": 506,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000913576.1",
"gene_hgnc_id": 11571,
"gene_symbol": "TARDBP",
"hgvs_c": "c.506A>G",
"hgvs_p": "p.Asp169Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583635.1",
"strand": true,
"transcript": "ENST00000913576.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 304,
"aa_ref": "D",
"aa_start": 169,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1008,
"cdna_start": 506,
"cds_end": null,
"cds_length": 915,
"cds_start": 506,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000621790.4",
"gene_hgnc_id": 11571,
"gene_symbol": "TARDBP",
"hgvs_c": "c.506A>G",
"hgvs_p": "p.Asp169Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000482191.1",
"strand": true,
"transcript": "ENST00000621790.4",
"transcript_support_level": 5
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 301,
"aa_ref": "D",
"aa_start": 169,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 920,
"cdna_start": 506,
"cds_end": null,
"cds_length": 906,
"cds_start": 506,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000616545.4",
"gene_hgnc_id": 11571,
"gene_symbol": "TARDBP",
"hgvs_c": "c.506A>G",
"hgvs_p": "p.Asp169Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000484722.1",
"strand": true,
"transcript": "ENST00000616545.4",
"transcript_support_level": 5
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 298,
"aa_ref": "D",
"aa_start": 169,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1031,
"cdna_start": 640,
"cds_end": null,
"cds_length": 897,
"cds_start": 506,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000629725.2",
"gene_hgnc_id": 11571,
"gene_symbol": "TARDBP",
"hgvs_c": "c.506A>G",
"hgvs_p": "p.Asp169Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000486989.1",
"strand": true,
"transcript": "ENST00000629725.2",
"transcript_support_level": 5
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 295,
"aa_ref": "D",
"aa_start": 169,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1835,
"cdna_start": 518,
"cds_end": null,
"cds_length": 888,
"cds_start": 506,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000315091.7",
"gene_hgnc_id": 11571,
"gene_symbol": "TARDBP",
"hgvs_c": "c.506A>G",
"hgvs_p": "p.Asp169Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000313129.3",
"strand": true,
"transcript": "ENST00000315091.7",
"transcript_support_level": 5
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 274,
"aa_ref": "D",
"aa_start": 210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 929,
"cdna_start": 731,
"cds_end": null,
"cds_length": 827,
"cds_start": 629,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000476201.5",
"gene_hgnc_id": 11571,
"gene_symbol": "TARDBP",
"hgvs_c": "c.629A>G",
"hgvs_p": "p.Asp210Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000466842.2",
"strand": true,
"transcript": "ENST00000476201.5",
"transcript_support_level": 5
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 242,
"aa_ref": "D",
"aa_start": 169,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 816,
"cdna_start": 592,
"cds_end": null,
"cds_length": 730,
"cds_start": 506,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000621715.4",
"gene_hgnc_id": 11571,
"gene_symbol": "TARDBP",
"hgvs_c": "c.506A>G",
"hgvs_p": "p.Asp169Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000480690.1",
"strand": true,
"transcript": "ENST00000621715.4",
"transcript_support_level": 3
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 211,
"aa_ref": "D",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 980,
"cdna_start": 247,
"cds_end": null,
"cds_length": 636,
"cds_start": 245,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000617172.4",
"gene_hgnc_id": 11571,
"gene_symbol": "TARDBP",
"hgvs_c": "c.245A>G",
"hgvs_p": "p.Asp82Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000479219.1",
"strand": true,
"transcript": "ENST00000617172.4",
"transcript_support_level": 5
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 200,
"aa_ref": "D",
"aa_start": 169,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 701,
"cdna_start": 603,
"cds_end": null,
"cds_length": 604,
"cds_start": 506,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000473118.5",
"gene_hgnc_id": 11571,
"gene_symbol": "TARDBP",
"hgvs_c": "c.506A>G",
"hgvs_p": "p.Asp169Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000465240.1",
"strand": true,
"transcript": "ENST00000473118.5",
"transcript_support_level": 3
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 199,
"aa_ref": "D",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 706,
"cdna_start": 253,
"cds_end": null,
"cds_length": 600,
"cds_start": 251,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000622057.4",
"gene_hgnc_id": 11571,
"gene_symbol": "TARDBP",
"hgvs_c": "c.251A>G",
"hgvs_p": "p.Asp84Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000481206.1",
"strand": true,
"transcript": "ENST00000622057.4",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1388,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000439080.6",
"gene_hgnc_id": 11571,
"gene_symbol": "TARDBP",
"hgvs_c": "n.*87A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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