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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: 7-74508107-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=74508107&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 11,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "GTF2IRD1",
"hgnc_id": 4661,
"hgvs_c": "c.27C>T",
"hgvs_p": "p.Asp9Asp",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -11,
"transcript": "NM_001199207.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7",
"acmg_score": -11,
"allele_count_reference_population": 267,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.33,
"chr": "7",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.33000001311302185,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 944,
"aa_ref": "D",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3284,
"cdna_start": 304,
"cds_end": null,
"cds_length": 2835,
"cds_start": 27,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_005685.4",
"gene_hgnc_id": 4661,
"gene_symbol": "GTF2IRD1",
"hgvs_c": "c.27C>T",
"hgvs_p": "p.Asp9Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000424337.7",
"protein_coding": true,
"protein_id": "NP_005676.3",
"strand": true,
"transcript": "NM_005685.4",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 944,
"aa_ref": "D",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3284,
"cdna_start": 304,
"cds_end": null,
"cds_length": 2835,
"cds_start": 27,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000424337.7",
"gene_hgnc_id": 4661,
"gene_symbol": "GTF2IRD1",
"hgvs_c": "c.27C>T",
"hgvs_p": "p.Asp9Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005685.4",
"protein_coding": true,
"protein_id": "ENSP00000408477.2",
"strand": true,
"transcript": "ENST00000424337.7",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 976,
"aa_ref": "D",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3315,
"cdna_start": 240,
"cds_end": null,
"cds_length": 2931,
"cds_start": 27,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000455841.6",
"gene_hgnc_id": 4661,
"gene_symbol": "GTF2IRD1",
"hgvs_c": "c.27C>T",
"hgvs_p": "p.Asp9Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000397566.2",
"strand": true,
"transcript": "ENST00000455841.6",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 960,
"aa_ref": "D",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5868,
"cdna_start": 1718,
"cds_end": null,
"cds_length": 2883,
"cds_start": 27,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000476977.5",
"gene_hgnc_id": 4661,
"gene_symbol": "GTF2IRD1",
"hgvs_c": "c.27C>T",
"hgvs_p": "p.Asp9Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000418383.1",
"strand": true,
"transcript": "ENST00000476977.5",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 959,
"aa_ref": "D",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3430,
"cdna_start": 420,
"cds_end": null,
"cds_length": 2880,
"cds_start": 27,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000265755.7",
"gene_hgnc_id": 4661,
"gene_symbol": "GTF2IRD1",
"hgvs_c": "c.27C>T",
"hgvs_p": "p.Asp9Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000265755.3",
"strand": true,
"transcript": "ENST00000265755.7",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1011,
"aa_ref": "D",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3486,
"cdna_start": 301,
"cds_end": null,
"cds_length": 3036,
"cds_start": 27,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000929917.1",
"gene_hgnc_id": 4661,
"gene_symbol": "GTF2IRD1",
"hgvs_c": "c.27C>T",
"hgvs_p": "p.Asp9Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599976.1",
"strand": true,
"transcript": "ENST00000929917.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 976,
"aa_ref": "D",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3380,
"cdna_start": 304,
"cds_end": null,
"cds_length": 2931,
"cds_start": 27,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001199207.2",
"gene_hgnc_id": 4661,
"gene_symbol": "GTF2IRD1",
"hgvs_c": "c.27C>T",
"hgvs_p": "p.Asp9Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001186136.1",
"strand": true,
"transcript": "NM_001199207.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 976,
"aa_ref": "D",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3238,
"cdna_start": 162,
"cds_end": null,
"cds_length": 2931,
"cds_start": 27,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000971628.1",
"gene_hgnc_id": 4661,
"gene_symbol": "GTF2IRD1",
"hgvs_c": "c.27C>T",
"hgvs_p": "p.Asp9Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641687.1",
"strand": true,
"transcript": "ENST00000971628.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 975,
"aa_ref": "D",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3429,
"cdna_start": 356,
"cds_end": null,
"cds_length": 2928,
"cds_start": 27,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000929912.1",
"gene_hgnc_id": 4661,
"gene_symbol": "GTF2IRD1",
"hgvs_c": "c.27C>T",
"hgvs_p": "p.Asp9Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599971.1",
"strand": true,
"transcript": "ENST00000929912.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 972,
"aa_ref": "D",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3204,
"cdna_start": 163,
"cds_end": null,
"cds_length": 2919,
"cds_start": 27,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000971621.1",
"gene_hgnc_id": 4661,
"gene_symbol": "GTF2IRD1",
"hgvs_c": "c.27C>T",
"hgvs_p": "p.Asp9Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641680.1",
"strand": true,
"transcript": "ENST00000971621.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 960,
"aa_ref": "D",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4020,
"cdna_start": 167,
"cds_end": null,
"cds_length": 2883,
"cds_start": 27,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001410888.1",
"gene_hgnc_id": 4661,
"gene_symbol": "GTF2IRD1",
"hgvs_c": "c.27C>T",
"hgvs_p": "p.Asp9Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397817.1",
"strand": true,
"transcript": "NM_001410888.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 959,
"aa_ref": "D",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3329,
"cdna_start": 304,
"cds_end": null,
"cds_length": 2880,
"cds_start": 27,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_016328.3",
"gene_hgnc_id": 4661,
"gene_symbol": "GTF2IRD1",
"hgvs_c": "c.27C>T",
"hgvs_p": "p.Asp9Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_057412.1",
"strand": true,
"transcript": "NM_016328.3",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 959,
"aa_ref": "D",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3175,
"cdna_start": 150,
"cds_end": null,
"cds_length": 2880,
"cds_start": 27,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000909899.1",
"gene_hgnc_id": 4661,
"gene_symbol": "GTF2IRD1",
"hgvs_c": "c.27C>T",
"hgvs_p": "p.Asp9Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579958.1",
"strand": true,
"transcript": "ENST00000909899.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 959,
"aa_ref": "D",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3134,
"cdna_start": 109,
"cds_end": null,
"cds_length": 2880,
"cds_start": 27,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000909902.1",
"gene_hgnc_id": 4661,
"gene_symbol": "GTF2IRD1",
"hgvs_c": "c.27C>T",
"hgvs_p": "p.Asp9Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579960.1",
"strand": true,
"transcript": "ENST00000909902.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
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"aa_length": 959,
"aa_ref": "D",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3117,
"cdna_start": 114,
"cds_end": null,
"cds_length": 2880,
"cds_start": 27,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000909903.1",
"gene_hgnc_id": 4661,
"gene_symbol": "GTF2IRD1",
"hgvs_c": "c.27C>T",
"hgvs_p": "p.Asp9Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579962.1",
"strand": true,
"transcript": "ENST00000909903.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 959,
"aa_ref": "D",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3120,
"cdna_start": 95,
"cds_end": null,
"cds_length": 2880,
"cds_start": 27,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000971619.1",
"gene_hgnc_id": 4661,
"gene_symbol": "GTF2IRD1",
"hgvs_c": "c.27C>T",
"hgvs_p": "p.Asp9Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641678.1",
"strand": true,
"transcript": "ENST00000971619.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 958,
"aa_ref": "D",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3367,
"cdna_start": 345,
"cds_end": null,
"cds_length": 2877,
"cds_start": 27,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000929916.1",
"gene_hgnc_id": 4661,
"gene_symbol": "GTF2IRD1",
"hgvs_c": "c.27C>T",
"hgvs_p": "p.Asp9Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599975.1",
"strand": true,
"transcript": "ENST00000929916.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
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"aa_length": 944,
"aa_ref": "D",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3098,
"cdna_start": 105,
"cds_end": null,
"cds_length": 2835,
"cds_start": 27,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000909892.1",
"gene_hgnc_id": 4661,
"gene_symbol": "GTF2IRD1",
"hgvs_c": "c.27C>T",
"hgvs_p": "p.Asp9Asp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579951.1",
"strand": true,
"transcript": "ENST00000909892.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
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"aa_ref": "D",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3352,
"cdna_start": 372,
"cds_end": null,
"cds_length": 2835,
"cds_start": 27,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000909897.1",
"gene_hgnc_id": 4661,
"gene_symbol": "GTF2IRD1",
"hgvs_c": "c.27C>T",
"hgvs_p": "p.Asp9Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579956.1",
"strand": true,
"transcript": "ENST00000909897.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 944,
"aa_ref": "D",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3159,
"cdna_start": 179,
"cds_end": null,
"cds_length": 2835,
"cds_start": 27,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000909900.1",
"gene_hgnc_id": 4661,
"gene_symbol": "GTF2IRD1",
"hgvs_c": "c.27C>T",
"hgvs_p": "p.Asp9Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579959.1",
"strand": true,
"transcript": "ENST00000909900.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 944,
"aa_ref": "D",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3065,
"cdna_start": 71,
"cds_end": null,
"cds_length": 2835,
"cds_start": 27,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000929911.1",
"gene_hgnc_id": 4661,
"gene_symbol": "GTF2IRD1",
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