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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: 6-123497195-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=123497195&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "TRDN",
"hgnc_id": 12261,
"hgvs_c": "c.851C>T",
"hgvs_p": "p.Pro284Leu",
"inheritance_mode": "AR,AD",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_006073.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "TRDN-AS1",
"hgnc_id": 40592,
"hgvs_c": "n.322-12251G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 4,
"score": 4,
"transcript": "ENST00000656482.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 1,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.2564,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.13,
"chr": "6",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.3840078115463257,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 729,
"aa_ref": "P",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4627,
"cdna_start": 1026,
"cds_end": null,
"cds_length": 2190,
"cds_start": 851,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 41,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_006073.4",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.851C>T",
"hgvs_p": "p.Pro284Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000334268.9",
"protein_coding": true,
"protein_id": "NP_006064.2",
"strand": false,
"transcript": "NM_006073.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 729,
"aa_ref": "P",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4627,
"cdna_start": 1026,
"cds_end": null,
"cds_length": 2190,
"cds_start": 851,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 41,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000334268.9",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.851C>T",
"hgvs_p": "p.Pro284Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006073.4",
"protein_coding": true,
"protein_id": "ENSP00000333984.5",
"strand": false,
"transcript": "ENST00000334268.9",
"transcript_support_level": 1
},
{
"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": 1661,
"cdna_start": null,
"cds_end": null,
"cds_length": 894,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000628709.2",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.793+6524C>T",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000486095.1",
"strand": false,
"transcript": "ENST00000628709.2",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 730,
"aa_ref": "P",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4683,
"cdna_start": 1081,
"cds_end": null,
"cds_length": 2193,
"cds_start": 851,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 41,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000962661.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.851C>T",
"hgvs_p": "p.Pro284Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632720.1",
"strand": false,
"transcript": "ENST00000962661.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 729,
"aa_ref": "P",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4889,
"cdna_start": 1101,
"cds_end": null,
"cds_length": 2190,
"cds_start": 851,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 41,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000962654.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.851C>T",
"hgvs_p": "p.Pro284Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632713.1",
"strand": false,
"transcript": "ENST00000962654.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 729,
"aa_ref": "P",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4713,
"cdna_start": 1115,
"cds_end": null,
"cds_length": 2190,
"cds_start": 851,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 41,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000962655.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.851C>T",
"hgvs_p": "p.Pro284Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632714.1",
"strand": false,
"transcript": "ENST00000962655.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 729,
"aa_ref": "P",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4680,
"cdna_start": 1081,
"cds_end": null,
"cds_length": 2190,
"cds_start": 851,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 41,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000962660.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.851C>T",
"hgvs_p": "p.Pro284Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632719.1",
"strand": false,
"transcript": "ENST00000962660.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 729,
"aa_ref": "P",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4676,
"cdna_start": 1078,
"cds_end": null,
"cds_length": 2190,
"cds_start": 851,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 41,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000962662.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.851C>T",
"hgvs_p": "p.Pro284Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632721.1",
"strand": false,
"transcript": "ENST00000962662.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 728,
"aa_ref": "P",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4978,
"cdna_start": 1336,
"cds_end": null,
"cds_length": 2187,
"cds_start": 851,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 41,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000962653.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.851C>T",
"hgvs_p": "p.Pro284Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632712.1",
"strand": false,
"transcript": "ENST00000962653.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 728,
"aa_ref": "P",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4705,
"cdna_start": 1109,
"cds_end": null,
"cds_length": 2187,
"cds_start": 851,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 41,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000962656.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.851C>T",
"hgvs_p": "p.Pro284Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632715.1",
"strand": false,
"transcript": "ENST00000962656.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 728,
"aa_ref": "P",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4661,
"cdna_start": 1065,
"cds_end": null,
"cds_length": 2187,
"cds_start": 851,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 41,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000962663.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.851C>T",
"hgvs_p": "p.Pro284Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632722.1",
"strand": false,
"transcript": "ENST00000962663.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 728,
"aa_ref": "P",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4660,
"cdna_start": 1064,
"cds_end": null,
"cds_length": 2187,
"cds_start": 851,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 41,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000962664.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.851C>T",
"hgvs_p": "p.Pro284Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632723.1",
"strand": false,
"transcript": "ENST00000962664.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 727,
"aa_ref": "P",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4675,
"cdna_start": 1082,
"cds_end": null,
"cds_length": 2184,
"cds_start": 851,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 41,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000962659.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.851C>T",
"hgvs_p": "p.Pro284Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632718.1",
"strand": false,
"transcript": "ENST00000962659.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 727,
"aa_ref": "P",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3679,
"cdna_start": 1114,
"cds_end": null,
"cds_length": 2184,
"cds_start": 851,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 41,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000962682.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.851C>T",
"hgvs_p": "p.Pro284Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632741.1",
"strand": false,
"transcript": "ENST00000962682.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 726,
"aa_ref": "P",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4569,
"cdna_start": 1047,
"cds_end": null,
"cds_length": 2181,
"cds_start": 851,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 41,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000962678.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.851C>T",
"hgvs_p": "p.Pro284Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632737.1",
"strand": false,
"transcript": "ENST00000962678.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 725,
"aa_ref": "P",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4602,
"cdna_start": 1081,
"cds_end": null,
"cds_length": 2178,
"cds_start": 851,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 41,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000962674.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.851C>T",
"hgvs_p": "p.Pro284Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632733.1",
"strand": false,
"transcript": "ENST00000962674.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 719,
"aa_ref": "P",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4678,
"cdna_start": 1110,
"cds_end": null,
"cds_length": 2160,
"cds_start": 851,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 40,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000962657.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.851C>T",
"hgvs_p": "p.Pro284Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632716.1",
"strand": false,
"transcript": "ENST00000962657.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 719,
"aa_ref": "P",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4616,
"cdna_start": 1047,
"cds_end": null,
"cds_length": 2160,
"cds_start": 851,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 40,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000962666.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.851C>T",
"hgvs_p": "p.Pro284Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632725.1",
"strand": false,
"transcript": "ENST00000962666.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 719,
"aa_ref": "P",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4602,
"cdna_start": 1034,
"cds_end": null,
"cds_length": 2160,
"cds_start": 851,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 40,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000962671.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.851C>T",
"hgvs_p": "p.Pro284Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632730.1",
"strand": false,
"transcript": "ENST00000962671.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 718,
"aa_ref": "P",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4594,
"cdna_start": 1028,
"cds_end": null,
"cds_length": 2157,
"cds_start": 851,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 40,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000962673.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.851C>T",
"hgvs_p": "p.Pro284Leu",
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