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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: 12-6970961-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=6970961&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "EMG1",
"hgnc_id": 16912,
"hgvs_c": "c.38G>T",
"hgvs_p": "p.Arg13Leu",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_006331.8",
"verdict": "Benign"
},
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000290146",
"hgnc_id": null,
"hgvs_c": "n.41G>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -20,
"transcript": "ENST00000607161.5",
"verdict": "Benign"
},
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"upstream_gene_variant"
],
"gene_symbol": "PHB2",
"hgnc_id": 30306,
"hgvs_c": "c.-418C>A",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_001267700.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_score": -20,
"allele_count_reference_population": 2360,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1254,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.44,
"chr": "12",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0036773383617401123,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 244,
"aa_ref": "R",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4873,
"cdna_start": 49,
"cds_end": null,
"cds_length": 735,
"cds_start": 38,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_006331.8",
"gene_hgnc_id": 16912,
"gene_symbol": "EMG1",
"hgvs_c": "c.38G>T",
"hgvs_p": "p.Arg13Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000599672.6",
"protein_coding": true,
"protein_id": "NP_006322.4",
"strand": true,
"transcript": "NM_006331.8",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 244,
"aa_ref": "R",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4873,
"cdna_start": 49,
"cds_end": null,
"cds_length": 735,
"cds_start": 38,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000599672.6",
"gene_hgnc_id": 16912,
"gene_symbol": "EMG1",
"hgvs_c": "c.38G>T",
"hgvs_p": "p.Arg13Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006331.8",
"protein_coding": true,
"protein_id": "ENSP00000470560.1",
"strand": true,
"transcript": "ENST00000599672.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 1087,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000607161.5",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000290146",
"hgvs_c": "n.41G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000480420.1",
"strand": true,
"transcript": "ENST00000607161.5",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 282,
"aa_ref": "R",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1030,
"cdna_start": 55,
"cds_end": null,
"cds_length": 849,
"cds_start": 38,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000960685.1",
"gene_hgnc_id": 16912,
"gene_symbol": "EMG1",
"hgvs_c": "c.38G>T",
"hgvs_p": "p.Arg13Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630744.1",
"strand": true,
"transcript": "ENST00000960685.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 253,
"aa_ref": "R",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 959,
"cdna_start": 67,
"cds_end": null,
"cds_length": 762,
"cds_start": 38,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000925393.1",
"gene_hgnc_id": 16912,
"gene_symbol": "EMG1",
"hgvs_c": "c.38G>T",
"hgvs_p": "p.Arg13Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595452.1",
"strand": true,
"transcript": "ENST00000925393.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 245,
"aa_ref": "R",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1032,
"cdna_start": 157,
"cds_end": null,
"cds_length": 738,
"cds_start": 38,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000925391.1",
"gene_hgnc_id": 16912,
"gene_symbol": "EMG1",
"hgvs_c": "c.38G>T",
"hgvs_p": "p.Arg13Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595450.1",
"strand": true,
"transcript": "ENST00000925391.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 242,
"aa_ref": "R",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 936,
"cdna_start": 52,
"cds_end": null,
"cds_length": 729,
"cds_start": 38,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000925392.1",
"gene_hgnc_id": 16912,
"gene_symbol": "EMG1",
"hgvs_c": "c.38G>T",
"hgvs_p": "p.Arg13Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595451.1",
"strand": true,
"transcript": "ENST00000925392.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 241,
"aa_ref": "R",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 906,
"cdna_start": 49,
"cds_end": null,
"cds_length": 726,
"cds_start": 38,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000925395.1",
"gene_hgnc_id": 16912,
"gene_symbol": "EMG1",
"hgvs_c": "c.38G>T",
"hgvs_p": "p.Arg13Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595454.1",
"strand": true,
"transcript": "ENST00000925395.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 236,
"aa_ref": "R",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 905,
"cdna_start": 64,
"cds_end": null,
"cds_length": 711,
"cds_start": 38,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000925394.1",
"gene_hgnc_id": 16912,
"gene_symbol": "EMG1",
"hgvs_c": "c.38G>T",
"hgvs_p": "p.Arg13Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595453.1",
"strand": true,
"transcript": "ENST00000925394.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 233,
"aa_ref": "R",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 878,
"cdna_start": 46,
"cds_end": null,
"cds_length": 702,
"cds_start": 38,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000925398.1",
"gene_hgnc_id": 16912,
"gene_symbol": "EMG1",
"hgvs_c": "c.38G>T",
"hgvs_p": "p.Arg13Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595457.1",
"strand": true,
"transcript": "ENST00000925398.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 227,
"aa_ref": "R",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 861,
"cdna_start": 45,
"cds_end": null,
"cds_length": 684,
"cds_start": 38,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000960686.1",
"gene_hgnc_id": 16912,
"gene_symbol": "EMG1",
"hgvs_c": "c.38G>T",
"hgvs_p": "p.Arg13Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630745.1",
"strand": true,
"transcript": "ENST00000960686.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 222,
"aa_ref": "R",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 848,
"cdna_start": 49,
"cds_end": null,
"cds_length": 669,
"cds_start": 38,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000925397.1",
"gene_hgnc_id": 16912,
"gene_symbol": "EMG1",
"hgvs_c": "c.38G>T",
"hgvs_p": "p.Arg13Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595456.1",
"strand": true,
"transcript": "ENST00000925397.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 210,
"aa_ref": "R",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 812,
"cdna_start": 49,
"cds_end": null,
"cds_length": 633,
"cds_start": 38,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000925396.1",
"gene_hgnc_id": 16912,
"gene_symbol": "EMG1",
"hgvs_c": "c.38G>T",
"hgvs_p": "p.Arg13Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595455.1",
"strand": true,
"transcript": "ENST00000925396.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 194,
"aa_ref": "R",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4723,
"cdna_start": 49,
"cds_end": null,
"cds_length": 585,
"cds_start": 38,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001320049.2",
"gene_hgnc_id": 16912,
"gene_symbol": "EMG1",
"hgvs_c": "c.38G>T",
"hgvs_p": "p.Arg13Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001306978.1",
"strand": true,
"transcript": "NM_001320049.2",
"transcript_support_level": null
},
{
"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": 958,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000261406.7",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000290146",
"hgvs_c": "n.20G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000476966.2",
"strand": true,
"transcript": "ENST00000261406.7",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1223,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000611981.1",
"gene_hgnc_id": 16912,
"gene_symbol": "EMG1",
"hgvs_c": "n.49G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000611981.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 720,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000620255.1",
"gene_hgnc_id": 16912,
"gene_symbol": "EMG1",
"hgvs_c": "n.27G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000620255.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1095,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NR_135131.2",
"gene_hgnc_id": 16912,
"gene_symbol": "EMG1",
"hgvs_c": "n.49G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_135131.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 297,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1533,
"cdna_start": null,
"cds_end": null,
"cds_length": 894,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000925249.1",
"gene_hgnc_id": 30306,
"gene_symbol": "PHB2",
"hgvs_c": "c.-418C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595308.1",
"strand": true,
"transcript": "ENST00000925249.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 261,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1329,
"cdna_start": null,
"cds_end": null,
"cds_length": 786,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001267700.1",
"gene_hgnc_id": 30306,
"gene_symbol": "PHB2",
"hgvs_c": "c.-418C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001254629.1",
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