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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: 7-26371863-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=26371863&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "SNX10",
"hgnc_id": 14974,
"hgvs_c": "c.432C>T",
"hgvs_p": "p.His144His",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -3,
"transcript": "NM_001318198.1",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "SNX10-AS1",
"hgnc_id": 55845,
"hgvs_c": "n.857G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000656289.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Moderate,BP7",
"acmg_score": -3,
"allele_count_reference_population": 10,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.36,
"chr": "7",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.36000001430511475,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 201,
"aa_ref": "H",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2665,
"cdna_start": 602,
"cds_end": null,
"cds_length": 606,
"cds_start": 354,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_013322.3",
"gene_hgnc_id": 14974,
"gene_symbol": "SNX10",
"hgvs_c": "c.354C>T",
"hgvs_p": "p.His118His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000338523.9",
"protein_coding": true,
"protein_id": "NP_037454.2",
"strand": true,
"transcript": "NM_013322.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 201,
"aa_ref": "H",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2665,
"cdna_start": 602,
"cds_end": null,
"cds_length": 606,
"cds_start": 354,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000338523.9",
"gene_hgnc_id": 14974,
"gene_symbol": "SNX10",
"hgvs_c": "c.354C>T",
"hgvs_p": "p.His118His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_013322.3",
"protein_coding": true,
"protein_id": "ENSP00000343709.5",
"strand": true,
"transcript": "ENST00000338523.9",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 201,
"aa_ref": "H",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2491,
"cdna_start": 482,
"cds_end": null,
"cds_length": 606,
"cds_start": 354,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000396376.5",
"gene_hgnc_id": 14974,
"gene_symbol": "SNX10",
"hgvs_c": "c.354C>T",
"hgvs_p": "p.His118His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379661.1",
"strand": true,
"transcript": "ENST00000396376.5",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 201,
"aa_ref": "H",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2613,
"cdna_start": 616,
"cds_end": null,
"cds_length": 606,
"cds_start": 354,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000446848.6",
"gene_hgnc_id": 14974,
"gene_symbol": "SNX10",
"hgvs_c": "c.354C>T",
"hgvs_p": "p.His118His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000395474.3",
"strand": true,
"transcript": "ENST00000446848.6",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 117,
"aa_ref": "H",
"aa_start": 34,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 944,
"cdna_start": 320,
"cds_end": null,
"cds_length": 354,
"cds_start": 102,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000409838.1",
"gene_hgnc_id": 14974,
"gene_symbol": "SNX10",
"hgvs_c": "c.102C>T",
"hgvs_p": "p.His34His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386540.1",
"strand": true,
"transcript": "ENST00000409838.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 806,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000462993.1",
"gene_hgnc_id": 14974,
"gene_symbol": "SNX10",
"hgvs_c": "n.380C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000462993.1",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 227,
"aa_ref": "H",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2699,
"cdna_start": 690,
"cds_end": null,
"cds_length": 684,
"cds_start": 432,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001318198.1",
"gene_hgnc_id": 14974,
"gene_symbol": "SNX10",
"hgvs_c": "c.432C>T",
"hgvs_p": "p.His144His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305127.1",
"strand": true,
"transcript": "NM_001318198.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 227,
"aa_ref": "H",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2844,
"cdna_start": 835,
"cds_end": null,
"cds_length": 684,
"cds_start": 432,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001362753.1",
"gene_hgnc_id": 14974,
"gene_symbol": "SNX10",
"hgvs_c": "c.432C>T",
"hgvs_p": "p.His144His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001349682.1",
"strand": true,
"transcript": "NM_001362753.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 227,
"aa_ref": "H",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2763,
"cdna_start": 754,
"cds_end": null,
"cds_length": 684,
"cds_start": 432,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001362754.1",
"gene_hgnc_id": 14974,
"gene_symbol": "SNX10",
"hgvs_c": "c.432C>T",
"hgvs_p": "p.His144His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001349683.1",
"strand": true,
"transcript": "NM_001362754.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 223,
"aa_ref": "H",
"aa_start": 140,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2932,
"cdna_start": 955,
"cds_end": null,
"cds_length": 672,
"cds_start": 420,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000698087.1",
"gene_hgnc_id": 14974,
"gene_symbol": "SNX10",
"hgvs_c": "c.420C>T",
"hgvs_p": "p.His140His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513557.1",
"strand": true,
"transcript": "ENST00000698087.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 223,
"aa_ref": "H",
"aa_start": 140,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2590,
"cdna_start": 585,
"cds_end": null,
"cds_length": 672,
"cds_start": 420,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000911861.1",
"gene_hgnc_id": 14974,
"gene_symbol": "SNX10",
"hgvs_c": "c.420C>T",
"hgvs_p": "p.His140His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581920.1",
"strand": true,
"transcript": "ENST00000911861.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 201,
"aa_ref": "H",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2625,
"cdna_start": 616,
"cds_end": null,
"cds_length": 606,
"cds_start": 354,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001199835.1",
"gene_hgnc_id": 14974,
"gene_symbol": "SNX10",
"hgvs_c": "c.354C>T",
"hgvs_p": "p.His118His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001186764.1",
"strand": true,
"transcript": "NM_001199835.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 201,
"aa_ref": "H",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2568,
"cdna_start": 505,
"cds_end": null,
"cds_length": 606,
"cds_start": 354,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001318199.3",
"gene_hgnc_id": 14974,
"gene_symbol": "SNX10",
"hgvs_c": "c.354C>T",
"hgvs_p": "p.His118His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305128.1",
"strand": true,
"transcript": "NM_001318199.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 201,
"aa_ref": "H",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2599,
"cdna_start": 613,
"cds_end": null,
"cds_length": 606,
"cds_start": 354,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000698078.1",
"gene_hgnc_id": 14974,
"gene_symbol": "SNX10",
"hgvs_c": "c.354C>T",
"hgvs_p": "p.His118His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513550.1",
"strand": true,
"transcript": "ENST00000698078.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 201,
"aa_ref": "H",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2517,
"cdna_start": 531,
"cds_end": null,
"cds_length": 606,
"cds_start": 354,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000698079.1",
"gene_hgnc_id": 14974,
"gene_symbol": "SNX10",
"hgvs_c": "c.354C>T",
"hgvs_p": "p.His118His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513551.1",
"strand": true,
"transcript": "ENST00000698079.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 201,
"aa_ref": "H",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2882,
"cdna_start": 896,
"cds_end": null,
"cds_length": 606,
"cds_start": 354,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000698080.1",
"gene_hgnc_id": 14974,
"gene_symbol": "SNX10",
"hgvs_c": "c.354C>T",
"hgvs_p": "p.His118His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513552.1",
"strand": true,
"transcript": "ENST00000698080.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 201,
"aa_ref": "H",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2519,
"cdna_start": 533,
"cds_end": null,
"cds_length": 606,
"cds_start": 354,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000698088.1",
"gene_hgnc_id": 14974,
"gene_symbol": "SNX10",
"hgvs_c": "c.354C>T",
"hgvs_p": "p.His118His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513558.1",
"strand": true,
"transcript": "ENST00000698088.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 201,
"aa_ref": "H",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2879,
"cdna_start": 893,
"cds_end": null,
"cds_length": 606,
"cds_start": 354,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000698090.1",
"gene_hgnc_id": 14974,
"gene_symbol": "SNX10",
"hgvs_c": "c.354C>T",
"hgvs_p": "p.His118His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513560.1",
"strand": true,
"transcript": "ENST00000698090.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 201,
"aa_ref": "H",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2737,
"cdna_start": 732,
"cds_end": null,
"cds_length": 606,
"cds_start": 354,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000905668.1",
"gene_hgnc_id": 14974,
"gene_symbol": "SNX10",
"hgvs_c": "c.354C>T",
"hgvs_p": "p.His118His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575727.1",
"strand": true,
"transcript": "ENST00000905668.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 201,
"aa_ref": "H",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2708,
"cdna_start": 703,
"cds_end": null,
"cds_length": 606,
"cds_start": 354,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000905669.1",
"gene_hgnc_id": 14974,
"gene_symbol": "SNX10",
"hgvs_c": "c.354C>T",
"hgvs_p": "p.His118His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575728.1",
"strand": true,
"transcript": "ENST00000905669.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 201,
"aa_ref": "H",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2697,
"cdna_start": 692,
"cds_end": null,
"cds_length": 606,
"cds_start": 354,
"consequences": [
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