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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: 4-76180996-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=76180996&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "SCARB2",
"hgnc_id": 1665,
"hgvs_c": "c.381C>T",
"hgvs_p": "p.Asp127Asp",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -3,
"transcript": "NM_005506.4",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000286074",
"hgnc_id": 58820,
"hgvs_c": "n.103-18970G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000651366.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_score": -3,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.5,
"chr": "4",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.5,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 478,
"aa_ref": "D",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4694,
"cdna_start": 662,
"cds_end": null,
"cds_length": 1437,
"cds_start": 381,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_005506.4",
"gene_hgnc_id": 1665,
"gene_symbol": "SCARB2",
"hgvs_c": "c.381C>T",
"hgvs_p": "p.Asp127Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000264896.8",
"protein_coding": true,
"protein_id": "NP_005497.1",
"strand": false,
"transcript": "NM_005506.4",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 478,
"aa_ref": "D",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4694,
"cdna_start": 662,
"cds_end": null,
"cds_length": 1437,
"cds_start": 381,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000264896.8",
"gene_hgnc_id": 1665,
"gene_symbol": "SCARB2",
"hgvs_c": "c.381C>T",
"hgvs_p": "p.Asp127Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005506.4",
"protein_coding": true,
"protein_id": "ENSP00000264896.2",
"strand": false,
"transcript": "ENST00000264896.8",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 518,
"aa_ref": "D",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1734,
"cdna_start": 358,
"cds_end": null,
"cds_length": 1557,
"cds_start": 357,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000640634.1",
"gene_hgnc_id": 1665,
"gene_symbol": "SCARB2",
"hgvs_c": "c.357C>T",
"hgvs_p": "p.Asp119Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000492737.1",
"strand": false,
"transcript": "ENST00000640634.1",
"transcript_support_level": 5
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 486,
"aa_ref": "D",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2052,
"cdna_start": 714,
"cds_end": null,
"cds_length": 1461,
"cds_start": 381,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000862445.1",
"gene_hgnc_id": 1665,
"gene_symbol": "SCARB2",
"hgvs_c": "c.381C>T",
"hgvs_p": "p.Asp127Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532504.1",
"strand": false,
"transcript": "ENST00000862445.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 475,
"aa_ref": "D",
"aa_start": 124,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4471,
"cdna_start": 705,
"cds_end": null,
"cds_length": 1428,
"cds_start": 372,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000639145.1",
"gene_hgnc_id": 1665,
"gene_symbol": "SCARB2",
"hgvs_c": "c.372C>T",
"hgvs_p": "p.Asp124Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000492831.1",
"strand": false,
"transcript": "ENST00000639145.1",
"transcript_support_level": 5
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 471,
"aa_ref": "D",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3191,
"cdna_start": 662,
"cds_end": null,
"cds_length": 1416,
"cds_start": 381,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000862444.1",
"gene_hgnc_id": 1665,
"gene_symbol": "SCARB2",
"hgvs_c": "c.381C>T",
"hgvs_p": "p.Asp127Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532503.1",
"strand": false,
"transcript": "ENST00000862444.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 470,
"aa_ref": "D",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3255,
"cdna_start": 662,
"cds_end": null,
"cds_length": 1413,
"cds_start": 381,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000640957.1",
"gene_hgnc_id": 1665,
"gene_symbol": "SCARB2",
"hgvs_c": "c.381C>T",
"hgvs_p": "p.Asp127Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000492004.1",
"strand": false,
"transcript": "ENST00000640957.1",
"transcript_support_level": 5
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 464,
"aa_ref": "D",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4699,
"cdna_start": 714,
"cds_end": null,
"cds_length": 1395,
"cds_start": 381,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000862443.1",
"gene_hgnc_id": 1665,
"gene_symbol": "SCARB2",
"hgvs_c": "c.381C>T",
"hgvs_p": "p.Asp127Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532502.1",
"strand": false,
"transcript": "ENST00000862443.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 449,
"aa_ref": "D",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4608,
"cdna_start": 662,
"cds_end": null,
"cds_length": 1350,
"cds_start": 381,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000640640.1",
"gene_hgnc_id": 1665,
"gene_symbol": "SCARB2",
"hgvs_c": "c.381C>T",
"hgvs_p": "p.Asp127Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000492246.1",
"strand": false,
"transcript": "ENST00000640640.1",
"transcript_support_level": 5
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 438,
"aa_ref": "D",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4284,
"cdna_start": 429,
"cds_end": null,
"cds_length": 1317,
"cds_start": 381,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000638603.1",
"gene_hgnc_id": 1665,
"gene_symbol": "SCARB2",
"hgvs_c": "c.381C>T",
"hgvs_p": "p.Asp127Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000491728.1",
"strand": false,
"transcript": "ENST00000638603.1",
"transcript_support_level": 5
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 436,
"aa_ref": "D",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1918,
"cdna_start": 730,
"cds_end": null,
"cds_length": 1311,
"cds_start": 381,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000921155.1",
"gene_hgnc_id": 1665,
"gene_symbol": "SCARB2",
"hgvs_c": "c.381C>T",
"hgvs_p": "p.Asp127Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591214.1",
"strand": false,
"transcript": "ENST00000921155.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 415,
"aa_ref": "D",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4557,
"cdna_start": 714,
"cds_end": null,
"cds_length": 1248,
"cds_start": 381,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000862442.1",
"gene_hgnc_id": 1665,
"gene_symbol": "SCARB2",
"hgvs_c": "c.381C>T",
"hgvs_p": "p.Asp127Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532501.1",
"strand": false,
"transcript": "ENST00000862442.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 320,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4507,
"cdna_start": null,
"cds_end": null,
"cds_length": 963,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000638295.1",
"gene_hgnc_id": 1665,
"gene_symbol": "SCARB2",
"hgvs_c": "c.-94C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000492288.1",
"strand": false,
"transcript": "ENST00000638295.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 320,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4526,
"cdna_start": null,
"cds_end": null,
"cds_length": 963,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047416429.1",
"gene_hgnc_id": 1665,
"gene_symbol": "SCARB2",
"hgvs_c": "c.-94C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047272385.1",
"strand": false,
"transcript": "XM_047416429.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 320,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4392,
"cdna_start": null,
"cds_end": null,
"cds_length": 963,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047416430.1",
"gene_hgnc_id": 1665,
"gene_symbol": "SCARB2",
"hgvs_c": "c.-94C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047272386.1",
"strand": false,
"transcript": "XM_047416430.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 335,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4265,
"cdna_start": null,
"cds_end": null,
"cds_length": 1008,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001204255.2",
"gene_hgnc_id": 1665,
"gene_symbol": "SCARB2",
"hgvs_c": "c.276-5086C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001191184.1",
"strand": false,
"transcript": "NM_001204255.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 335,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1495,
"cdna_start": null,
"cds_end": null,
"cds_length": 1008,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000452464.6",
"gene_hgnc_id": 1665,
"gene_symbol": "SCARB2",
"hgvs_c": "c.276-5086C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000399154.2",
"strand": false,
"transcript": "ENST00000452464.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 174,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1517,
"cdna_start": null,
"cds_end": null,
"cds_length": 525,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000639738.1",
"gene_hgnc_id": 1665,
"gene_symbol": "SCARB2",
"hgvs_c": "c.276-14695C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000491792.1",
"strand": false,
"transcript": "ENST00000639738.1",
"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": 2552,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000502908.2",
"gene_hgnc_id": 1665,
"gene_symbol": "SCARB2",
"hgvs_c": "n.634C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000502908.2",
"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": 4811,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000638372.1",
"gene_hgnc_id": 1665,
"gene_symbol": "SCARB2",
"hgvs_c": "n.633C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000638372.1",
"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": 1922,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
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