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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: 1-150986602-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=150986602&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "ANXA9",
"hgnc_id": 547,
"hgvs_c": "c.553G>A",
"hgvs_p": "p.Gly185Arg",
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_003568.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 8,
"alphamissense_prediction": "Pathogenic",
"alphamissense_score": 0.5946,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.15,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.7812801599502563,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 345,
"aa_ref": "G",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1551,
"cdna_start": 754,
"cds_end": null,
"cds_length": 1038,
"cds_start": 553,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_003568.3",
"gene_hgnc_id": 547,
"gene_symbol": "ANXA9",
"hgvs_c": "c.553G>A",
"hgvs_p": "p.Gly185Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000368947.9",
"protein_coding": true,
"protein_id": "NP_003559.2",
"strand": true,
"transcript": "NM_003568.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 345,
"aa_ref": "G",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1551,
"cdna_start": 754,
"cds_end": null,
"cds_length": 1038,
"cds_start": 553,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000368947.9",
"gene_hgnc_id": 547,
"gene_symbol": "ANXA9",
"hgvs_c": "c.553G>A",
"hgvs_p": "p.Gly185Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003568.3",
"protein_coding": true,
"protein_id": "ENSP00000357943.4",
"strand": true,
"transcript": "ENST00000368947.9",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 345,
"aa_ref": "G",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2252,
"cdna_start": 1012,
"cds_end": null,
"cds_length": 1038,
"cds_start": 553,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000887888.1",
"gene_hgnc_id": 547,
"gene_symbol": "ANXA9",
"hgvs_c": "c.553G>A",
"hgvs_p": "p.Gly185Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557947.1",
"strand": true,
"transcript": "ENST00000887888.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 345,
"aa_ref": "G",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1797,
"cdna_start": 996,
"cds_end": null,
"cds_length": 1038,
"cds_start": 553,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000887895.1",
"gene_hgnc_id": 547,
"gene_symbol": "ANXA9",
"hgvs_c": "c.553G>A",
"hgvs_p": "p.Gly185Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557954.1",
"strand": true,
"transcript": "ENST00000887895.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 345,
"aa_ref": "G",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1840,
"cdna_start": 1039,
"cds_end": null,
"cds_length": 1038,
"cds_start": 553,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000887898.1",
"gene_hgnc_id": 547,
"gene_symbol": "ANXA9",
"hgvs_c": "c.553G>A",
"hgvs_p": "p.Gly185Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557957.1",
"strand": true,
"transcript": "ENST00000887898.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 345,
"aa_ref": "G",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1811,
"cdna_start": 1011,
"cds_end": null,
"cds_length": 1038,
"cds_start": 553,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000887901.1",
"gene_hgnc_id": 547,
"gene_symbol": "ANXA9",
"hgvs_c": "c.553G>A",
"hgvs_p": "p.Gly185Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557960.1",
"strand": true,
"transcript": "ENST00000887901.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 345,
"aa_ref": "G",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1777,
"cdna_start": 995,
"cds_end": null,
"cds_length": 1038,
"cds_start": 553,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000887903.1",
"gene_hgnc_id": 547,
"gene_symbol": "ANXA9",
"hgvs_c": "c.553G>A",
"hgvs_p": "p.Gly185Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557962.1",
"strand": true,
"transcript": "ENST00000887903.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 345,
"aa_ref": "G",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1536,
"cdna_start": 742,
"cds_end": null,
"cds_length": 1038,
"cds_start": 553,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000887906.1",
"gene_hgnc_id": 547,
"gene_symbol": "ANXA9",
"hgvs_c": "c.553G>A",
"hgvs_p": "p.Gly185Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557965.1",
"strand": true,
"transcript": "ENST00000887906.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 342,
"aa_ref": "G",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1793,
"cdna_start": 1002,
"cds_end": null,
"cds_length": 1029,
"cds_start": 553,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000887899.1",
"gene_hgnc_id": 547,
"gene_symbol": "ANXA9",
"hgvs_c": "c.553G>A",
"hgvs_p": "p.Gly185Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557958.1",
"strand": true,
"transcript": "ENST00000887899.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 341,
"aa_ref": "G",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1784,
"cdna_start": 990,
"cds_end": null,
"cds_length": 1026,
"cds_start": 541,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000887900.1",
"gene_hgnc_id": 547,
"gene_symbol": "ANXA9",
"hgvs_c": "c.541G>A",
"hgvs_p": "p.Gly181Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557959.1",
"strand": true,
"transcript": "ENST00000887900.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 338,
"aa_ref": "G",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2214,
"cdna_start": 1010,
"cds_end": null,
"cds_length": 1017,
"cds_start": 532,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000887891.1",
"gene_hgnc_id": 547,
"gene_symbol": "ANXA9",
"hgvs_c": "c.532G>A",
"hgvs_p": "p.Gly178Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557950.1",
"strand": true,
"transcript": "ENST00000887891.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 313,
"aa_ref": "G",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1700,
"cdna_start": 996,
"cds_end": null,
"cds_length": 942,
"cds_start": 553,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000887889.1",
"gene_hgnc_id": 547,
"gene_symbol": "ANXA9",
"hgvs_c": "c.553G>A",
"hgvs_p": "p.Gly185Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557948.1",
"strand": true,
"transcript": "ENST00000887889.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 313,
"aa_ref": "G",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2086,
"cdna_start": 978,
"cds_end": null,
"cds_length": 942,
"cds_start": 553,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000887893.1",
"gene_hgnc_id": 547,
"gene_symbol": "ANXA9",
"hgvs_c": "c.553G>A",
"hgvs_p": "p.Gly185Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557952.1",
"strand": true,
"transcript": "ENST00000887893.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 304,
"aa_ref": "G",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2209,
"cdna_start": 1092,
"cds_end": null,
"cds_length": 915,
"cds_start": 553,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000887887.1",
"gene_hgnc_id": 547,
"gene_symbol": "ANXA9",
"hgvs_c": "c.553G>A",
"hgvs_p": "p.Gly185Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557946.1",
"strand": true,
"transcript": "ENST00000887887.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 304,
"aa_ref": "G",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2133,
"cdna_start": 1052,
"cds_end": null,
"cds_length": 915,
"cds_start": 553,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000887890.1",
"gene_hgnc_id": 547,
"gene_symbol": "ANXA9",
"hgvs_c": "c.553G>A",
"hgvs_p": "p.Gly185Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557949.1",
"strand": true,
"transcript": "ENST00000887890.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 304,
"aa_ref": "G",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1625,
"cdna_start": 951,
"cds_end": null,
"cds_length": 915,
"cds_start": 553,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000887894.1",
"gene_hgnc_id": 547,
"gene_symbol": "ANXA9",
"hgvs_c": "c.553G>A",
"hgvs_p": "p.Gly185Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557953.1",
"strand": true,
"transcript": "ENST00000887894.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 297,
"aa_ref": "G",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1374,
"cdna_start": 703,
"cds_end": null,
"cds_length": 894,
"cds_start": 532,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000887905.1",
"gene_hgnc_id": 547,
"gene_symbol": "ANXA9",
"hgvs_c": "c.532G>A",
"hgvs_p": "p.Gly178Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557964.1",
"strand": true,
"transcript": "ENST00000887905.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 288,
"aa_ref": "G",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1653,
"cdna_start": 860,
"cds_end": null,
"cds_length": 867,
"cds_start": 382,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000887897.1",
"gene_hgnc_id": 547,
"gene_symbol": "ANXA9",
"hgvs_c": "c.382G>A",
"hgvs_p": "p.Gly128Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557956.1",
"strand": true,
"transcript": "ENST00000887897.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 265,
"aa_ref": "G",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1590,
"cdna_start": 1029,
"cds_end": null,
"cds_length": 798,
"cds_start": 553,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000887896.1",
"gene_hgnc_id": 547,
"gene_symbol": "ANXA9",
"hgvs_c": "c.553G>A",
"hgvs_p": "p.Gly185Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557955.1",
"strand": true,
"transcript": "ENST00000887896.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 362,
"aa_ref": "G",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2121,
"cdna_start": 764,
"cds_end": null,
"cds_length": 1089,
"cds_start": 553,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047431983.1",
"gene_hgnc_id": 547,
"gene_symbol": "ANXA9",
"hgvs_c": "c.553G>A",
"hgvs_p": "p.Gly185Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287939.1",
"strand": true,
"transcript": "XM_047431983.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 362,
"aa_ref": "G",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2353,
"cdna_start": 996,
"cds_end": null,
"cds_length": 1089,
"cds_start": 553,
"consequences": [
"missense_variant",
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