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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: 3-195867585-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=195867585&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 16,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TNK2",
"hgnc_id": 19297,
"hgvs_c": "c.2809G>A",
"hgvs_p": "p.Val937Met",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -16,
"transcript": "NM_001387707.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_score": -16,
"allele_count_reference_population": 13560,
"alphamissense_prediction": null,
"alphamissense_score": 0.1041,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.39,
"chr": "3",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.00592803955078125,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1055,
"aa_ref": "V",
"aa_start": 905,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4070,
"cdna_start": 2798,
"cds_end": null,
"cds_length": 3168,
"cds_start": 2713,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001382273.1",
"gene_hgnc_id": 19297,
"gene_symbol": "TNK2",
"hgvs_c": "c.2713G>A",
"hgvs_p": "p.Val905Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000672887.2",
"protein_coding": true,
"protein_id": "NP_001369202.1",
"strand": false,
"transcript": "NM_001382273.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1055,
"aa_ref": "V",
"aa_start": 905,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4070,
"cdna_start": 2798,
"cds_end": null,
"cds_length": 3168,
"cds_start": 2713,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000672887.2",
"gene_hgnc_id": 19297,
"gene_symbol": "TNK2",
"hgvs_c": "c.2713G>A",
"hgvs_p": "p.Val905Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001382273.1",
"protein_coding": true,
"protein_id": "ENSP00000499899.1",
"strand": false,
"transcript": "ENST00000672887.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1040,
"aa_ref": "V",
"aa_start": 922,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4235,
"cdna_start": 3060,
"cds_end": null,
"cds_length": 3123,
"cds_start": 2764,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000428187.7",
"gene_hgnc_id": 19297,
"gene_symbol": "TNK2",
"hgvs_c": "c.2764G>A",
"hgvs_p": "p.Val922Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000392546.1",
"strand": false,
"transcript": "ENST00000428187.7",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1038,
"aa_ref": "V",
"aa_start": 890,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5270,
"cdna_start": 4004,
"cds_end": null,
"cds_length": 3117,
"cds_start": 2668,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000333602.14",
"gene_hgnc_id": 19297,
"gene_symbol": "TNK2",
"hgvs_c": "c.2668G>A",
"hgvs_p": "p.Val890Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000329425.6",
"strand": false,
"transcript": "ENST00000333602.14",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1087,
"aa_ref": "V",
"aa_start": 937,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4337,
"cdna_start": 3065,
"cds_end": null,
"cds_length": 3264,
"cds_start": 2809,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001387707.1",
"gene_hgnc_id": 19297,
"gene_symbol": "TNK2",
"hgvs_c": "c.2809G>A",
"hgvs_p": "p.Val937Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374636.1",
"strand": false,
"transcript": "NM_001387707.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1086,
"aa_ref": "V",
"aa_start": 968,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4222,
"cdna_start": 3047,
"cds_end": null,
"cds_length": 3261,
"cds_start": 2902,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000381916.7",
"gene_hgnc_id": 19297,
"gene_symbol": "TNK2",
"hgvs_c": "c.2902G>A",
"hgvs_p": "p.Val968Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000371341.2",
"strand": false,
"transcript": "ENST00000381916.7",
"transcript_support_level": 2
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1079,
"aa_ref": "V",
"aa_start": 929,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4106,
"cdna_start": 2834,
"cds_end": null,
"cds_length": 3240,
"cds_start": 2785,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001382272.1",
"gene_hgnc_id": 19297,
"gene_symbol": "TNK2",
"hgvs_c": "c.2785G>A",
"hgvs_p": "p.Val929Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369201.1",
"strand": false,
"transcript": "NM_001382272.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1078,
"aa_ref": "V",
"aa_start": 928,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4099,
"cdna_start": 2830,
"cds_end": null,
"cds_length": 3237,
"cds_start": 2782,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000863906.1",
"gene_hgnc_id": 19297,
"gene_symbol": "TNK2",
"hgvs_c": "c.2782G>A",
"hgvs_p": "p.Val928Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533965.1",
"strand": false,
"transcript": "ENST00000863906.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1078,
"aa_ref": "V",
"aa_start": 928,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4406,
"cdna_start": 3134,
"cds_end": null,
"cds_length": 3237,
"cds_start": 2782,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000863912.1",
"gene_hgnc_id": 19297,
"gene_symbol": "TNK2",
"hgvs_c": "c.2782G>A",
"hgvs_p": "p.Val928Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533971.1",
"strand": false,
"transcript": "ENST00000863912.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1072,
"aa_ref": "V",
"aa_start": 922,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4292,
"cdna_start": 3020,
"cds_end": null,
"cds_length": 3219,
"cds_start": 2764,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001382271.1",
"gene_hgnc_id": 19297,
"gene_symbol": "TNK2",
"hgvs_c": "c.2764G>A",
"hgvs_p": "p.Val922Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369200.1",
"strand": false,
"transcript": "NM_001382271.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1072,
"aa_ref": "V",
"aa_start": 922,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4276,
"cdna_start": 3004,
"cds_end": null,
"cds_length": 3219,
"cds_start": 2764,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000673038.1",
"gene_hgnc_id": 19297,
"gene_symbol": "TNK2",
"hgvs_c": "c.2764G>A",
"hgvs_p": "p.Val922Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000500452.1",
"strand": false,
"transcript": "ENST00000673038.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1072,
"aa_ref": "V",
"aa_start": 922,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4292,
"cdna_start": 3020,
"cds_end": null,
"cds_length": 3219,
"cds_start": 2764,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000678220.1",
"gene_hgnc_id": 19297,
"gene_symbol": "TNK2",
"hgvs_c": "c.2764G>A",
"hgvs_p": "p.Val922Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503221.1",
"strand": false,
"transcript": "ENST00000678220.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1064,
"aa_ref": "V",
"aa_start": 914,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4061,
"cdna_start": 2789,
"cds_end": null,
"cds_length": 3195,
"cds_start": 2740,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001387708.1",
"gene_hgnc_id": 19297,
"gene_symbol": "TNK2",
"hgvs_c": "c.2740G>A",
"hgvs_p": "p.Val914Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374637.1",
"strand": false,
"transcript": "NM_001387708.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1055,
"aa_ref": "V",
"aa_start": 905,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4051,
"cdna_start": 2779,
"cds_end": null,
"cds_length": 3168,
"cds_start": 2713,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001382274.1",
"gene_hgnc_id": 19297,
"gene_symbol": "TNK2",
"hgvs_c": "c.2713G>A",
"hgvs_p": "p.Val905Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369203.1",
"strand": false,
"transcript": "NM_001382274.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1055,
"aa_ref": "V",
"aa_start": 937,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4241,
"cdna_start": 3065,
"cds_end": null,
"cds_length": 3168,
"cds_start": 2809,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001382275.1",
"gene_hgnc_id": 19297,
"gene_symbol": "TNK2",
"hgvs_c": "c.2809G>A",
"hgvs_p": "p.Val937Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369204.1",
"strand": false,
"transcript": "NM_001382275.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1055,
"aa_ref": "V",
"aa_start": 905,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4065,
"cdna_start": 2793,
"cds_end": null,
"cds_length": 3168,
"cds_start": 2713,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000863904.1",
"gene_hgnc_id": 19297,
"gene_symbol": "TNK2",
"hgvs_c": "c.2713G>A",
"hgvs_p": "p.Val905Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533963.1",
"strand": false,
"transcript": "ENST00000863904.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1055,
"aa_ref": "V",
"aa_start": 905,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4343,
"cdna_start": 3071,
"cds_end": null,
"cds_length": 3168,
"cds_start": 2713,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000863911.1",
"gene_hgnc_id": 19297,
"gene_symbol": "TNK2",
"hgvs_c": "c.2713G>A",
"hgvs_p": "p.Val905Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533970.1",
"strand": false,
"transcript": "ENST00000863911.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1047,
"aa_ref": "V",
"aa_start": 929,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4010,
"cdna_start": 2834,
"cds_end": null,
"cds_length": 3144,
"cds_start": 2785,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001010938.2",
"gene_hgnc_id": 19297,
"gene_symbol": "TNK2",
"hgvs_c": "c.2785G>A",
"hgvs_p": "p.Val929Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001010938.2",
"strand": false,
"transcript": "NM_001010938.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1047,
"aa_ref": "V",
"aa_start": 929,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4223,
"cdna_start": 3047,
"cds_end": null,
"cds_length": 3144,
"cds_start": 2785,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000671753.1",
"gene_hgnc_id": 19297,
"gene_symbol": "TNK2",
"hgvs_c": "c.2785G>A",
"hgvs_p": "p.Val929Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499858.1",
"strand": false,
"transcript": "ENST00000671753.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1040,
"aa_ref": "V",
"aa_start": 922,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4196,
"cdna_start": 3020,
"cds_end": null,
"cds_length": 3123,
"cds_start": 2764,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001308046.2",
"gene_hgnc_id": 19297,
"gene_symbol": "TNK2",
"hgvs_c": "c.2764G>A",
"hgvs_p": "p.Val922Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001294975.1",
"strand": false,
"transcript": "NM_001308046.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1040,
"aa_ref": "V",
"aa_start": 890,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4025,
"cdna_start": 2753,
"cds_end": null,
"cds_length": 3123,
"cds_start": 2668,
"consequences": [
"missense_variant"
],
"exon_count": 15,
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