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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: 9-96321334-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=96321334&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SLC35D2",
"hgnc_id": 20799,
"hgvs_c": "c.922G>A",
"hgvs_p": "p.Gly308Arg",
"inheritance_mode": "AR",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_007001.3",
"verdict": "Likely_pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000285269",
"hgnc_id": null,
"hgvs_c": "n.523G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 6,
"score": 6,
"transcript": "ENST00000643789.1",
"verdict": "Likely_pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "SLC35D2-HSD17B3",
"hgnc_id": null,
"hgvs_c": "n.999G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 6,
"score": 6,
"transcript": "NR_182427.1",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_score": 6,
"allele_count_reference_population": 10,
"alphamissense_prediction": null,
"alphamissense_score": 0.9653,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.35,
"chr": "9",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9703327417373657,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 337,
"aa_ref": "G",
"aa_start": 308,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1623,
"cdna_start": 999,
"cds_end": null,
"cds_length": 1014,
"cds_start": 922,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_007001.3",
"gene_hgnc_id": 20799,
"gene_symbol": "SLC35D2",
"hgvs_c": "c.922G>A",
"hgvs_p": "p.Gly308Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000253270.13",
"protein_coding": true,
"protein_id": "NP_008932.2",
"strand": false,
"transcript": "NM_007001.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 337,
"aa_ref": "G",
"aa_start": 308,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1623,
"cdna_start": 999,
"cds_end": null,
"cds_length": 1014,
"cds_start": 922,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000253270.13",
"gene_hgnc_id": 20799,
"gene_symbol": "SLC35D2",
"hgvs_c": "c.922G>A",
"hgvs_p": "p.Gly308Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_007001.3",
"protein_coding": true,
"protein_id": "ENSP00000253270.7",
"strand": false,
"transcript": "ENST00000253270.13",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 249,
"aa_ref": "G",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1337,
"cdna_start": 713,
"cds_end": null,
"cds_length": 750,
"cds_start": 658,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000375259.9",
"gene_hgnc_id": 20799,
"gene_symbol": "SLC35D2",
"hgvs_c": "c.658G>A",
"hgvs_p": "p.Gly220Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000364408.4",
"strand": false,
"transcript": "ENST00000375259.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 3333,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 22,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000643789.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000285269",
"hgvs_c": "n.523G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000494818.1",
"strand": false,
"transcript": "ENST00000643789.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 378,
"aa_ref": "G",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1733,
"cdna_start": 1107,
"cds_end": null,
"cds_length": 1137,
"cds_start": 1045,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000955257.1",
"gene_hgnc_id": 20799,
"gene_symbol": "SLC35D2",
"hgvs_c": "c.1045G>A",
"hgvs_p": "p.Gly349Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625316.1",
"strand": false,
"transcript": "ENST00000955257.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 373,
"aa_ref": "G",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1695,
"cdna_start": 1068,
"cds_end": null,
"cds_length": 1122,
"cds_start": 1030,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000878040.1",
"gene_hgnc_id": 20799,
"gene_symbol": "SLC35D2",
"hgvs_c": "c.1030G>A",
"hgvs_p": "p.Gly344Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548099.1",
"strand": false,
"transcript": "ENST00000878040.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 362,
"aa_ref": "G",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3327,
"cdna_start": 1046,
"cds_end": null,
"cds_length": 1089,
"cds_start": 997,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000878036.1",
"gene_hgnc_id": 20799,
"gene_symbol": "SLC35D2",
"hgvs_c": "c.997G>A",
"hgvs_p": "p.Gly333Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548095.1",
"strand": false,
"transcript": "ENST00000878036.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 336,
"aa_ref": "G",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1621,
"cdna_start": 996,
"cds_end": null,
"cds_length": 1011,
"cds_start": 919,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000923824.1",
"gene_hgnc_id": 20799,
"gene_symbol": "SLC35D2",
"hgvs_c": "c.919G>A",
"hgvs_p": "p.Gly307Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593883.1",
"strand": false,
"transcript": "ENST00000923824.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 329,
"aa_ref": "G",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1579,
"cdna_start": 957,
"cds_end": null,
"cds_length": 990,
"cds_start": 898,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000878038.1",
"gene_hgnc_id": 20799,
"gene_symbol": "SLC35D2",
"hgvs_c": "c.898G>A",
"hgvs_p": "p.Gly300Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548097.1",
"strand": false,
"transcript": "ENST00000878038.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 314,
"aa_ref": "G",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1464,
"cdna_start": 920,
"cds_end": null,
"cds_length": 945,
"cds_start": 853,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000955259.1",
"gene_hgnc_id": 20799,
"gene_symbol": "SLC35D2",
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Gly285Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625318.1",
"strand": false,
"transcript": "ENST00000955259.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 313,
"aa_ref": "G",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1431,
"cdna_start": 888,
"cds_end": null,
"cds_length": 942,
"cds_start": 850,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000878042.1",
"gene_hgnc_id": 20799,
"gene_symbol": "SLC35D2",
"hgvs_c": "c.850G>A",
"hgvs_p": "p.Gly284Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548101.1",
"strand": false,
"transcript": "ENST00000878042.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 290,
"aa_ref": "G",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1457,
"cdna_start": 830,
"cds_end": null,
"cds_length": 873,
"cds_start": 781,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000878039.1",
"gene_hgnc_id": 20799,
"gene_symbol": "SLC35D2",
"hgvs_c": "c.781G>A",
"hgvs_p": "p.Gly261Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548098.1",
"strand": false,
"transcript": "ENST00000878039.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 280,
"aa_ref": "G",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1475,
"cdna_start": 813,
"cds_end": null,
"cds_length": 843,
"cds_start": 751,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000955255.1",
"gene_hgnc_id": 20799,
"gene_symbol": "SLC35D2",
"hgvs_c": "c.751G>A",
"hgvs_p": "p.Gly251Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625314.1",
"strand": false,
"transcript": "ENST00000955255.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 279,
"aa_ref": "G",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1448,
"cdna_start": 825,
"cds_end": null,
"cds_length": 840,
"cds_start": 748,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000955256.1",
"gene_hgnc_id": 20799,
"gene_symbol": "SLC35D2",
"hgvs_c": "c.748G>A",
"hgvs_p": "p.Gly250Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625315.1",
"strand": false,
"transcript": "ENST00000955256.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 257,
"aa_ref": "G",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1310,
"cdna_start": 687,
"cds_end": null,
"cds_length": 774,
"cds_start": 682,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000878041.1",
"gene_hgnc_id": 20799,
"gene_symbol": "SLC35D2",
"hgvs_c": "c.682G>A",
"hgvs_p": "p.Gly228Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548100.1",
"strand": false,
"transcript": "ENST00000878041.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 249,
"aa_ref": "G",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1359,
"cdna_start": 735,
"cds_end": null,
"cds_length": 750,
"cds_start": 658,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001286990.2",
"gene_hgnc_id": 20799,
"gene_symbol": "SLC35D2",
"hgvs_c": "c.658G>A",
"hgvs_p": "p.Gly220Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273919.1",
"strand": false,
"transcript": "NM_001286990.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 249,
"aa_ref": "G",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1319,
"cdna_start": 695,
"cds_end": null,
"cds_length": 750,
"cds_start": 658,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000955258.1",
"gene_hgnc_id": 20799,
"gene_symbol": "SLC35D2",
"hgvs_c": "c.658G>A",
"hgvs_p": "p.Gly220Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625317.1",
"strand": false,
"transcript": "ENST00000955258.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 233,
"aa_ref": "G",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1315,
"cdna_start": 687,
"cds_end": null,
"cds_length": 702,
"cds_start": 610,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000923823.1",
"gene_hgnc_id": 20799,
"gene_symbol": "SLC35D2",
"hgvs_c": "c.610G>A",
"hgvs_p": "p.Gly204Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593882.1",
"strand": false,
"transcript": "ENST00000923823.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 202,
"aa_ref": "G",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1228,
"cdna_start": 594,
"cds_end": null,
"cds_length": 609,
"cds_start": 517,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000878037.1",
"gene_hgnc_id": 20799,
"gene_symbol": "SLC35D2",
"hgvs_c": "c.517G>A",
"hgvs_p": "p.Gly173Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548096.1",
"strand": false,
"transcript": "ENST00000878037.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 202,
"aa_ref": "G",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1146,
"cdna_start": 594,
"cds_end": null,
"cds_length": 609,
"cds_start": 517,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000923825.1",
"gene_hgnc_id": 20799,
"gene_symbol": "SLC35D2",
"hgvs_c": "c.517G>A",
"hgvs_p": "p.Gly173Arg",
"intron_rank": null,
"intron_rank_end": null,
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