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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: 17-4719350-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=4719350&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 4719350,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001257328.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARRB2",
"gene_hgnc_id": 712,
"hgvs_c": "c.847C>T",
"hgvs_p": "p.Arg283Trp",
"transcript": "NM_004313.4",
"protein_id": "NP_004304.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 409,
"cds_start": 847,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000269260.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004313.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARRB2",
"gene_hgnc_id": 712,
"hgvs_c": "c.847C>T",
"hgvs_p": "p.Arg283Trp",
"transcript": "ENST00000269260.7",
"protein_id": "ENSP00000269260.2",
"transcript_support_level": 1,
"aa_start": 283,
"aa_end": null,
"aa_length": 409,
"cds_start": 847,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004313.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000269260.7"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARRB2",
"gene_hgnc_id": 712,
"hgvs_c": "c.271C>T",
"hgvs_p": "p.Arg91Trp",
"transcript": "ENST00000574954.5",
"protein_id": "ENSP00000466344.1",
"transcript_support_level": 1,
"aa_start": 91,
"aa_end": null,
"aa_length": 217,
"cds_start": 271,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000574954.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARRB2",
"gene_hgnc_id": 712,
"hgvs_c": "c.910C>T",
"hgvs_p": "p.Arg304Trp",
"transcript": "NM_001257328.2",
"protein_id": "NP_001244257.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 430,
"cds_start": 910,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001257328.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARRB2",
"gene_hgnc_id": 712,
"hgvs_c": "c.910C>T",
"hgvs_p": "p.Arg304Trp",
"transcript": "ENST00000412477.7",
"protein_id": "ENSP00000403701.3",
"transcript_support_level": 2,
"aa_start": 304,
"aa_end": null,
"aa_length": 430,
"cds_start": 910,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412477.7"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARRB2",
"gene_hgnc_id": 712,
"hgvs_c": "c.847C>T",
"hgvs_p": "p.Arg283Trp",
"transcript": "NM_001257330.2",
"protein_id": "NP_001244259.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 421,
"cds_start": 847,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001257330.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARRB2",
"gene_hgnc_id": 712,
"hgvs_c": "c.847C>T",
"hgvs_p": "p.Arg283Trp",
"transcript": "ENST00000855436.1",
"protein_id": "ENSP00000525496.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 421,
"cds_start": 847,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855436.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARRB2",
"gene_hgnc_id": 712,
"hgvs_c": "c.847C>T",
"hgvs_p": "p.Arg283Trp",
"transcript": "ENST00000855441.1",
"protein_id": "ENSP00000525500.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 409,
"cds_start": 847,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855441.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARRB2",
"gene_hgnc_id": 712,
"hgvs_c": "c.802C>T",
"hgvs_p": "p.Arg268Trp",
"transcript": "NM_001257331.2",
"protein_id": "NP_001244260.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 406,
"cds_start": 802,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001257331.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARRB2",
"gene_hgnc_id": 712,
"hgvs_c": "c.802C>T",
"hgvs_p": "p.Arg268Trp",
"transcript": "ENST00000346341.6",
"protein_id": "ENSP00000341895.2",
"transcript_support_level": 2,
"aa_start": 268,
"aa_end": null,
"aa_length": 406,
"cds_start": 802,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000346341.6"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARRB2",
"gene_hgnc_id": 712,
"hgvs_c": "c.802C>T",
"hgvs_p": "p.Arg268Trp",
"transcript": "NM_199004.2",
"protein_id": "NP_945355.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 394,
"cds_start": 802,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_199004.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARRB2",
"gene_hgnc_id": 712,
"hgvs_c": "c.802C>T",
"hgvs_p": "p.Arg268Trp",
"transcript": "ENST00000381488.10",
"protein_id": "ENSP00000370898.6",
"transcript_support_level": 2,
"aa_start": 268,
"aa_end": null,
"aa_length": 394,
"cds_start": 802,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381488.10"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARRB2",
"gene_hgnc_id": 712,
"hgvs_c": "c.790C>T",
"hgvs_p": "p.Arg264Trp",
"transcript": "ENST00000855440.1",
"protein_id": "ENSP00000525499.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 390,
"cds_start": 790,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855440.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARRB2",
"gene_hgnc_id": 712,
"hgvs_c": "c.745C>T",
"hgvs_p": "p.Arg249Trp",
"transcript": "ENST00000855442.1",
"protein_id": "ENSP00000525501.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 375,
"cds_start": 745,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855442.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARRB2",
"gene_hgnc_id": 712,
"hgvs_c": "c.739C>T",
"hgvs_p": "p.Arg247Trp",
"transcript": "ENST00000915218.1",
"protein_id": "ENSP00000585277.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 373,
"cds_start": 739,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915218.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARRB2",
"gene_hgnc_id": 712,
"hgvs_c": "c.847C>T",
"hgvs_p": "p.Arg283Trp",
"transcript": "ENST00000855439.1",
"protein_id": "ENSP00000525498.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 364,
"cds_start": 847,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855439.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARRB2",
"gene_hgnc_id": 712,
"hgvs_c": "c.271C>T",
"hgvs_p": "p.Arg91Trp",
"transcript": "NM_001330064.2",
"protein_id": "NP_001316993.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 217,
"cds_start": 271,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330064.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARRB2",
"gene_hgnc_id": 712,
"hgvs_c": "c.271C>T",
"hgvs_p": "p.Arg91Trp",
"transcript": "ENST00000571206.1",
"protein_id": "ENSP00000460607.1",
"transcript_support_level": 5,
"aa_start": 91,
"aa_end": null,
"aa_length": 217,
"cds_start": 271,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000571206.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARRB2",
"gene_hgnc_id": 712,
"hgvs_c": "c.271C>T",
"hgvs_p": "p.Arg91Trp",
"transcript": "ENST00000572457.5",
"protein_id": "ENSP00000465296.1",
"transcript_support_level": 5,
"aa_start": 91,
"aa_end": null,
"aa_length": 217,
"cds_start": 271,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000572457.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARRB2",
"gene_hgnc_id": 712,
"hgvs_c": "c.271C>T",
"hgvs_p": "p.Arg91Trp",
"transcript": "ENST00000571428.5",
"protein_id": "ENSP00000465877.1",
"transcript_support_level": 3,
"aa_start": 91,
"aa_end": null,
"aa_length": 112,
"cds_start": 271,
"cds_end": null,
"cds_length": 339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000571428.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARRB2",
"gene_hgnc_id": 712,
"hgvs_c": "c.940C>T",
"hgvs_p": "p.Arg314Trp",
"transcript": "XM_011523858.3",
"protein_id": "XP_011522160.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 440,
"cds_start": 940,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523858.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARRB2",
"gene_hgnc_id": 712,
"hgvs_c": "c.271C>T",
"hgvs_p": "p.Arg91Trp",
"transcript": "XM_017024645.2",
"protein_id": "XP_016880134.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 229,
"cds_start": 271,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017024645.2"
},
{
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{
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"BS2"
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"verdict": "Likely_benign",
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"effects": [
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{
"score": 3,
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"PP3"
],
"verdict": "Uncertain_significance",
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"effects": [
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],
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}