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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: 16-4798570-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=4798570&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "ROGDI",
"hgnc_id": 29478,
"hgvs_c": "c.530C>T",
"hgvs_p": "p.Thr177Met",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_024589.3",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000285952",
"hgnc_id": null,
"hgvs_c": "n.1120C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000649556.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 33,
"alphamissense_prediction": null,
"alphamissense_score": 0.1119,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.51,
"chr": "16",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Amelocerebrohypohidrotic syndrome",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.04207026958465576,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 287,
"aa_ref": "T",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1418,
"cdna_start": 592,
"cds_end": null,
"cds_length": 864,
"cds_start": 530,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_024589.3",
"gene_hgnc_id": 29478,
"gene_symbol": "ROGDI",
"hgvs_c": "c.530C>T",
"hgvs_p": "p.Thr177Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000322048.12",
"protein_coding": true,
"protein_id": "NP_078865.1",
"strand": false,
"transcript": "NM_024589.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 287,
"aa_ref": "T",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1418,
"cdna_start": 592,
"cds_end": null,
"cds_length": 864,
"cds_start": 530,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000322048.12",
"gene_hgnc_id": 29478,
"gene_symbol": "ROGDI",
"hgvs_c": "c.530C>T",
"hgvs_p": "p.Thr177Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_024589.3",
"protein_coding": true,
"protein_id": "ENSP00000322832.6",
"strand": false,
"transcript": "ENST00000322048.12",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 300,
"aa_ref": "T",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1518,
"cdna_start": 653,
"cds_end": null,
"cds_length": 903,
"cds_start": 530,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000907806.1",
"gene_hgnc_id": 29478,
"gene_symbol": "ROGDI",
"hgvs_c": "c.530C>T",
"hgvs_p": "p.Thr177Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577865.1",
"strand": false,
"transcript": "ENST00000907806.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 294,
"aa_ref": "T",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1738,
"cdna_start": 885,
"cds_end": null,
"cds_length": 885,
"cds_start": 530,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000912071.1",
"gene_hgnc_id": 29478,
"gene_symbol": "ROGDI",
"hgvs_c": "c.530C>T",
"hgvs_p": "p.Thr177Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582130.1",
"strand": false,
"transcript": "ENST00000912071.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 293,
"aa_ref": "T",
"aa_start": 176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1495,
"cdna_start": 649,
"cds_end": null,
"cds_length": 882,
"cds_start": 527,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000968425.1",
"gene_hgnc_id": 29478,
"gene_symbol": "ROGDI",
"hgvs_c": "c.527C>T",
"hgvs_p": "p.Thr176Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638484.1",
"strand": false,
"transcript": "ENST00000968425.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 292,
"aa_ref": "T",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1702,
"cdna_start": 855,
"cds_end": null,
"cds_length": 879,
"cds_start": 524,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000907805.1",
"gene_hgnc_id": 29478,
"gene_symbol": "ROGDI",
"hgvs_c": "c.524C>T",
"hgvs_p": "p.Thr175Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577864.1",
"strand": false,
"transcript": "ENST00000907805.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 286,
"aa_ref": "T",
"aa_start": 176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1708,
"cdna_start": 882,
"cds_end": null,
"cds_length": 861,
"cds_start": 527,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000912072.1",
"gene_hgnc_id": 29478,
"gene_symbol": "ROGDI",
"hgvs_c": "c.527C>T",
"hgvs_p": "p.Thr176Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582131.1",
"strand": false,
"transcript": "ENST00000912072.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 286,
"aa_ref": "T",
"aa_start": 176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1383,
"cdna_start": 557,
"cds_end": null,
"cds_length": 861,
"cds_start": 527,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000912073.1",
"gene_hgnc_id": 29478,
"gene_symbol": "ROGDI",
"hgvs_c": "c.527C>T",
"hgvs_p": "p.Thr176Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582132.1",
"strand": false,
"transcript": "ENST00000912073.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 285,
"aa_ref": "T",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1419,
"cdna_start": 590,
"cds_end": null,
"cds_length": 858,
"cds_start": 524,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000907810.1",
"gene_hgnc_id": 29478,
"gene_symbol": "ROGDI",
"hgvs_c": "c.524C>T",
"hgvs_p": "p.Thr175Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577869.1",
"strand": false,
"transcript": "ENST00000907810.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 284,
"aa_ref": "T",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1442,
"cdna_start": 616,
"cds_end": null,
"cds_length": 855,
"cds_start": 521,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000907809.1",
"gene_hgnc_id": 29478,
"gene_symbol": "ROGDI",
"hgvs_c": "c.521C>T",
"hgvs_p": "p.Thr174Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577868.1",
"strand": false,
"transcript": "ENST00000907809.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 270,
"aa_ref": "T",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1400,
"cdna_start": 553,
"cds_end": null,
"cds_length": 813,
"cds_start": 458,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000907808.1",
"gene_hgnc_id": 29478,
"gene_symbol": "ROGDI",
"hgvs_c": "c.458C>T",
"hgvs_p": "p.Thr153Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577867.1",
"strand": false,
"transcript": "ENST00000907808.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 263,
"aa_ref": "T",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1644,
"cdna_start": 813,
"cds_end": null,
"cds_length": 792,
"cds_start": 458,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000907804.1",
"gene_hgnc_id": 29478,
"gene_symbol": "ROGDI",
"hgvs_c": "c.458C>T",
"hgvs_p": "p.Thr153Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577863.1",
"strand": false,
"transcript": "ENST00000907804.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 252,
"aa_ref": "T",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 811,
"cdna_start": 508,
"cds_end": null,
"cds_length": 761,
"cds_start": 458,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000591392.5",
"gene_hgnc_id": 29478,
"gene_symbol": "ROGDI",
"hgvs_c": "c.458C>T",
"hgvs_p": "p.Thr153Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000467509.1",
"strand": false,
"transcript": "ENST00000591392.5",
"transcript_support_level": 3
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 241,
"aa_ref": "T",
"aa_start": 131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1319,
"cdna_start": 493,
"cds_end": null,
"cds_length": 726,
"cds_start": 392,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000907807.1",
"gene_hgnc_id": 29478,
"gene_symbol": "ROGDI",
"hgvs_c": "c.392C>T",
"hgvs_p": "p.Thr131Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577866.1",
"strand": false,
"transcript": "ENST00000907807.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 236,
"aa_ref": "T",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1300,
"cdna_start": 628,
"cds_end": null,
"cds_length": 711,
"cds_start": 530,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000968426.1",
"gene_hgnc_id": 29478,
"gene_symbol": "ROGDI",
"hgvs_c": "c.530C>T",
"hgvs_p": "p.Thr177Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638485.1",
"strand": false,
"transcript": "ENST00000968426.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 217,
"aa_ref": "T",
"aa_start": 107,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1210,
"cdna_start": 385,
"cds_end": null,
"cds_length": 654,
"cds_start": 320,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000907811.1",
"gene_hgnc_id": 29478,
"gene_symbol": "ROGDI",
"hgvs_c": "c.320C>T",
"hgvs_p": "p.Thr107Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577870.1",
"strand": false,
"transcript": "ENST00000907811.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 215,
"aa_ref": "T",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 651,
"cdna_start": 310,
"cds_end": null,
"cds_length": 649,
"cds_start": 308,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000586504.5",
"gene_hgnc_id": 29478,
"gene_symbol": "ROGDI",
"hgvs_c": "c.308C>T",
"hgvs_p": "p.Thr103Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000465076.1",
"strand": false,
"transcript": "ENST00000586504.5",
"transcript_support_level": 5
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 170,
"aa_ref": "T",
"aa_start": 72,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 570,
"cdna_start": 271,
"cds_end": null,
"cds_length": 514,
"cds_start": 215,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000587711.5",
"gene_hgnc_id": 29478,
"gene_symbol": "ROGDI",
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Thr72Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000467459.1",
"strand": false,
"transcript": "ENST00000587711.5",
"transcript_support_level": 5
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 294,
"aa_ref": "T",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1439,
"cdna_start": 592,
"cds_end": null,
"cds_length": 885,
"cds_start": 530,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_006720947.5",
"gene_hgnc_id": 29478,
"gene_symbol": "ROGDI",
"hgvs_c": "c.530C>T",
"hgvs_p": "p.Thr177Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006721010.1",
"strand": false,
"transcript": "XM_006720947.5",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 204,
"aa_ref": "T",
"aa_start": 87,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1272,
"cdna_start": 425,
"cds_end": null,
"cds_length": 615,
"cds_start": 260,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047434636.1",
"gene_hgnc_id": 29478,
"gene_symbol": "ROGDI",
"hgvs_c": "c.260C>T",
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