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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: 8-100522709-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=100522709&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ANKRD46",
"hgnc_id": 27229,
"hgvs_c": "c.533G>C",
"hgvs_p": "p.Ser178Thr",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001270379.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.128,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.18,
"chr": "8",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.46593838930130005,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 228,
"aa_ref": "S",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2649,
"cdna_start": 712,
"cds_end": null,
"cds_length": 687,
"cds_start": 533,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001270377.2",
"gene_hgnc_id": 27229,
"gene_symbol": "ANKRD46",
"hgvs_c": "c.533G>C",
"hgvs_p": "p.Ser178Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000335659.7",
"protein_coding": true,
"protein_id": "NP_001257306.1",
"strand": false,
"transcript": "NM_001270377.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 228,
"aa_ref": "S",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2649,
"cdna_start": 712,
"cds_end": null,
"cds_length": 687,
"cds_start": 533,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000335659.7",
"gene_hgnc_id": 27229,
"gene_symbol": "ANKRD46",
"hgvs_c": "c.533G>C",
"hgvs_p": "p.Ser178Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001270377.2",
"protein_coding": true,
"protein_id": "ENSP00000335287.3",
"strand": false,
"transcript": "ENST00000335659.7",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 232,
"aa_ref": "S",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1686,
"cdna_start": 695,
"cds_end": null,
"cds_length": 699,
"cds_start": 533,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000520552.5",
"gene_hgnc_id": 27229,
"gene_symbol": "ANKRD46",
"hgvs_c": "c.533G>C",
"hgvs_p": "p.Ser178Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000429015.1",
"strand": false,
"transcript": "ENST00000520552.5",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 228,
"aa_ref": "S",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2779,
"cdna_start": 842,
"cds_end": null,
"cds_length": 687,
"cds_start": 533,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000519597.5",
"gene_hgnc_id": 27229,
"gene_symbol": "ANKRD46",
"hgvs_c": "c.533G>C",
"hgvs_p": "p.Ser178Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000430056.1",
"strand": false,
"transcript": "ENST00000519597.5",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 232,
"aa_ref": "S",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1703,
"cdna_start": 712,
"cds_end": null,
"cds_length": 699,
"cds_start": 533,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001270379.2",
"gene_hgnc_id": 27229,
"gene_symbol": "ANKRD46",
"hgvs_c": "c.533G>C",
"hgvs_p": "p.Ser178Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001257308.1",
"strand": false,
"transcript": "NM_001270379.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 228,
"aa_ref": "S",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3322,
"cdna_start": 1385,
"cds_end": null,
"cds_length": 687,
"cds_start": 533,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001270378.2",
"gene_hgnc_id": 27229,
"gene_symbol": "ANKRD46",
"hgvs_c": "c.533G>C",
"hgvs_p": "p.Ser178Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001257307.1",
"strand": false,
"transcript": "NM_001270378.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 228,
"aa_ref": "S",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2754,
"cdna_start": 817,
"cds_end": null,
"cds_length": 687,
"cds_start": 533,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_198401.4",
"gene_hgnc_id": 27229,
"gene_symbol": "ANKRD46",
"hgvs_c": "c.533G>C",
"hgvs_p": "p.Ser178Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_940683.1",
"strand": false,
"transcript": "NM_198401.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 228,
"aa_ref": "S",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3270,
"cdna_start": 1337,
"cds_end": null,
"cds_length": 687,
"cds_start": 533,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000520311.5",
"gene_hgnc_id": 27229,
"gene_symbol": "ANKRD46",
"hgvs_c": "c.533G>C",
"hgvs_p": "p.Ser178Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000428388.1",
"strand": false,
"transcript": "ENST00000520311.5",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 228,
"aa_ref": "S",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3509,
"cdna_start": 1572,
"cds_end": null,
"cds_length": 687,
"cds_start": 533,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000862175.1",
"gene_hgnc_id": 27229,
"gene_symbol": "ANKRD46",
"hgvs_c": "c.533G>C",
"hgvs_p": "p.Ser178Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532234.1",
"strand": false,
"transcript": "ENST00000862175.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 228,
"aa_ref": "S",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2759,
"cdna_start": 822,
"cds_end": null,
"cds_length": 687,
"cds_start": 533,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000862176.1",
"gene_hgnc_id": 27229,
"gene_symbol": "ANKRD46",
"hgvs_c": "c.533G>C",
"hgvs_p": "p.Ser178Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532235.1",
"strand": false,
"transcript": "ENST00000862176.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 228,
"aa_ref": "S",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2721,
"cdna_start": 788,
"cds_end": null,
"cds_length": 687,
"cds_start": 533,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000862177.1",
"gene_hgnc_id": 27229,
"gene_symbol": "ANKRD46",
"hgvs_c": "c.533G>C",
"hgvs_p": "p.Ser178Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532236.1",
"strand": false,
"transcript": "ENST00000862177.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 228,
"aa_ref": "S",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2762,
"cdna_start": 828,
"cds_end": null,
"cds_length": 687,
"cds_start": 533,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000862178.1",
"gene_hgnc_id": 27229,
"gene_symbol": "ANKRD46",
"hgvs_c": "c.533G>C",
"hgvs_p": "p.Ser178Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532237.1",
"strand": false,
"transcript": "ENST00000862178.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 228,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2907,
"cdna_start": 970,
"cds_end": null,
"cds_length": 687,
"cds_start": 533,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000862179.1",
"gene_hgnc_id": 27229,
"gene_symbol": "ANKRD46",
"hgvs_c": "c.533G>C",
"hgvs_p": "p.Ser178Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532238.1",
"strand": false,
"transcript": "ENST00000862179.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 228,
"aa_ref": "S",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2905,
"cdna_start": 968,
"cds_end": null,
"cds_length": 687,
"cds_start": 533,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000862180.1",
"gene_hgnc_id": 27229,
"gene_symbol": "ANKRD46",
"hgvs_c": "c.533G>C",
"hgvs_p": "p.Ser178Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532239.1",
"strand": false,
"transcript": "ENST00000862180.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 228,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3388,
"cdna_start": 1454,
"cds_end": null,
"cds_length": 687,
"cds_start": 533,
"consequences": [
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],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000862181.1",
"gene_hgnc_id": 27229,
"gene_symbol": "ANKRD46",
"hgvs_c": "c.533G>C",
"hgvs_p": "p.Ser178Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532240.1",
"strand": false,
"transcript": "ENST00000862181.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 228,
"aa_ref": "S",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3007,
"cdna_start": 1073,
"cds_end": null,
"cds_length": 687,
"cds_start": 533,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000862182.1",
"gene_hgnc_id": 27229,
"gene_symbol": "ANKRD46",
"hgvs_c": "c.533G>C",
"hgvs_p": "p.Ser178Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532241.1",
"strand": false,
"transcript": "ENST00000862182.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 228,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2870,
"cdna_start": 937,
"cds_end": null,
"cds_length": 687,
"cds_start": 533,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000862183.1",
"gene_hgnc_id": 27229,
"gene_symbol": "ANKRD46",
"hgvs_c": "c.533G>C",
"hgvs_p": "p.Ser178Thr",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000532242.1",
"strand": false,
"transcript": "ENST00000862183.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 228,
"aa_ref": "S",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 2679,
"cdna_start": 751,
"cds_end": null,
"cds_length": 687,
"cds_start": 533,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000862184.1",
"gene_hgnc_id": 27229,
"gene_symbol": "ANKRD46",
"hgvs_c": "c.533G>C",
"hgvs_p": "p.Ser178Thr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532243.1",
"strand": false,
"transcript": "ENST00000862184.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 228,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3039,
"cdna_start": 1105,
"cds_end": null,
"cds_length": 687,
"cds_start": 533,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000862185.1",
"gene_hgnc_id": 27229,
"gene_symbol": "ANKRD46",
"hgvs_c": "c.533G>C",
"hgvs_p": "p.Ser178Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532244.1",
"strand": false,
"transcript": "ENST00000862185.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 228,
"aa_ref": "S",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2110,
"cdna_start": 1242,
"cds_end": null,
"cds_length": 687,
"cds_start": 533,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000862186.1",
"gene_hgnc_id": 27229,
"gene_symbol": "ANKRD46",
"hgvs_c": "c.533G>C",
"hgvs_p": "p.Ser178Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532245.1",
"strand": false,
"transcript": "ENST00000862186.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 228,
"aa_ref": "S",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2798,
"cdna_start": 864,
"cds_end": null,
"cds_length": 687,
"cds_start": 533,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000862187.1",
"gene_hgnc_id": 27229,
"gene_symbol": "ANKRD46",
"hgvs_c": "c.533G>C",
"hgvs_p": "p.Ser178Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532246.1",
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