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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: 3-69026027-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=69026027&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 69026027,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001363879.1",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMF1",
"gene_hgnc_id": 11870,
"hgvs_c": "c.2828T>A",
"hgvs_p": "p.Met943Lys",
"transcript": "NM_007114.3",
"protein_id": "NP_009045.2",
"transcript_support_level": null,
"aa_start": 943,
"aa_end": null,
"aa_length": 1093,
"cds_start": 2828,
"cds_end": null,
"cds_length": 3282,
"cdna_start": 3075,
"cdna_end": null,
"cdna_length": 6879,
"mane_select": "ENST00000398559.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007114.3"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMF1",
"gene_hgnc_id": 11870,
"hgvs_c": "c.2828T>A",
"hgvs_p": "p.Met943Lys",
"transcript": "ENST00000398559.7",
"protein_id": "ENSP00000381567.2",
"transcript_support_level": 1,
"aa_start": 943,
"aa_end": null,
"aa_length": 1093,
"cds_start": 2828,
"cds_end": null,
"cds_length": 3282,
"cdna_start": 3075,
"cdna_end": null,
"cdna_length": 6879,
"mane_select": "NM_007114.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398559.7"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMF1",
"gene_hgnc_id": 11870,
"hgvs_c": "c.2843T>A",
"hgvs_p": "p.Met948Lys",
"transcript": "ENST00000948167.1",
"protein_id": "ENSP00000618226.1",
"transcript_support_level": null,
"aa_start": 948,
"aa_end": null,
"aa_length": 1098,
"cds_start": 2843,
"cds_end": null,
"cds_length": 3297,
"cdna_start": 3022,
"cdna_end": null,
"cdna_length": 4333,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948167.1"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMF1",
"gene_hgnc_id": 11870,
"hgvs_c": "c.2837T>A",
"hgvs_p": "p.Met946Lys",
"transcript": "NM_001363879.1",
"protein_id": "NP_001350808.1",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 1096,
"cds_start": 2837,
"cds_end": null,
"cds_length": 3291,
"cdna_start": 3084,
"cdna_end": null,
"cdna_length": 6888,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363879.1"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMF1",
"gene_hgnc_id": 11870,
"hgvs_c": "c.2837T>A",
"hgvs_p": "p.Met946Lys",
"transcript": "ENST00000646708.1",
"protein_id": "ENSP00000494067.1",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 1096,
"cds_start": 2837,
"cds_end": null,
"cds_length": 3291,
"cdna_start": 3084,
"cdna_end": null,
"cdna_length": 4867,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646708.1"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMF1",
"gene_hgnc_id": 11870,
"hgvs_c": "c.2825T>A",
"hgvs_p": "p.Met942Lys",
"transcript": "ENST00000936590.1",
"protein_id": "ENSP00000606649.1",
"transcript_support_level": null,
"aa_start": 942,
"aa_end": null,
"aa_length": 1092,
"cds_start": 2825,
"cds_end": null,
"cds_length": 3279,
"cdna_start": 2993,
"cdna_end": null,
"cdna_length": 4309,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936590.1"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMF1",
"gene_hgnc_id": 11870,
"hgvs_c": "c.2819T>A",
"hgvs_p": "p.Met940Lys",
"transcript": "ENST00000948162.1",
"protein_id": "ENSP00000618221.1",
"transcript_support_level": null,
"aa_start": 940,
"aa_end": null,
"aa_length": 1090,
"cds_start": 2819,
"cds_end": null,
"cds_length": 3273,
"cdna_start": 3015,
"cdna_end": null,
"cdna_length": 4785,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948162.1"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMF1",
"gene_hgnc_id": 11870,
"hgvs_c": "c.2837T>A",
"hgvs_p": "p.Met946Lys",
"transcript": "ENST00000948166.1",
"protein_id": "ENSP00000618225.1",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 1085,
"cds_start": 2837,
"cds_end": null,
"cds_length": 3258,
"cdna_start": 3042,
"cdna_end": null,
"cdna_length": 4308,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948166.1"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMF1",
"gene_hgnc_id": 11870,
"hgvs_c": "c.2828T>A",
"hgvs_p": "p.Met943Lys",
"transcript": "ENST00000948163.1",
"protein_id": "ENSP00000618222.1",
"transcript_support_level": null,
"aa_start": 943,
"aa_end": null,
"aa_length": 1051,
"cds_start": 2828,
"cds_end": null,
"cds_length": 3156,
"cdna_start": 3024,
"cdna_end": null,
"cdna_length": 4668,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948163.1"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMF1",
"gene_hgnc_id": 11870,
"hgvs_c": "c.2504T>A",
"hgvs_p": "p.Met835Lys",
"transcript": "ENST00000646304.1",
"protein_id": "ENSP00000496378.1",
"transcript_support_level": null,
"aa_start": 835,
"aa_end": null,
"aa_length": 985,
"cds_start": 2504,
"cds_end": null,
"cds_length": 2958,
"cdna_start": 2757,
"cdna_end": null,
"cdna_length": 6546,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646304.1"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMF1",
"gene_hgnc_id": 11870,
"hgvs_c": "c.2489T>A",
"hgvs_p": "p.Met830Lys",
"transcript": "ENST00000948165.1",
"protein_id": "ENSP00000618224.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 980,
"cds_start": 2489,
"cds_end": null,
"cds_length": 2943,
"cdna_start": 2742,
"cdna_end": null,
"cdna_length": 4051,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948165.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TMF1",
"gene_hgnc_id": 11870,
"hgvs_c": "c.2758-315T>A",
"hgvs_p": null,
"transcript": "ENST00000948164.1",
"protein_id": "ENSP00000618223.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1059,
"cds_start": null,
"cds_end": null,
"cds_length": 3180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4676,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948164.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMF1",
"gene_hgnc_id": 11870,
"hgvs_c": "n.*313T>A",
"hgvs_p": null,
"transcript": "ENST00000488010.5",
"protein_id": "ENSP00000419330.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3399,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000488010.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMF1",
"gene_hgnc_id": 11870,
"hgvs_c": "n.74T>A",
"hgvs_p": null,
"transcript": "ENST00000489370.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 372,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000489370.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMF1",
"gene_hgnc_id": 11870,
"hgvs_c": "n.270T>A",
"hgvs_p": null,
"transcript": "ENST00000645406.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1215,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000645406.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMF1",
"gene_hgnc_id": 11870,
"hgvs_c": "n.*313T>A",
"hgvs_p": null,
"transcript": "ENST00000488010.5",
"protein_id": "ENSP00000419330.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3399,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000488010.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EOGT-DT",
"gene_hgnc_id": 55605,
"hgvs_c": "n.261+11826A>T",
"hgvs_p": null,
"transcript": "ENST00000482368.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 962,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000482368.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EOGT-DT",
"gene_hgnc_id": 55605,
"hgvs_c": "n.38+11826A>T",
"hgvs_p": null,
"transcript": "ENST00000595925.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 745,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000595925.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EOGT-DT",
"gene_hgnc_id": 55605,
"hgvs_c": "n.71+11967A>T",
"hgvs_p": null,
"transcript": "ENST00000596523.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 448,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000596523.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EOGT-DT",
"gene_hgnc_id": 55605,
"hgvs_c": "n.61-8948A>T",
"hgvs_p": null,
"transcript": "ENST00000596732.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 613,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000596732.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EOGT-DT",
"gene_hgnc_id": 55605,
"hgvs_c": "n.39-3838A>T",
"hgvs_p": null,
"transcript": "ENST00000597366.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 853,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000597366.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EOGT-DT",
"gene_hgnc_id": 55605,
"hgvs_c": "n.219-3838A>T",
"hgvs_p": null,
"transcript": "ENST00000597950.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 725,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000597950.5"
},
{
"aa_ref": null,
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"canonical": false,
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"BP4_Moderate"
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"verdict": "Uncertain_significance",
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{
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"verdict": "Uncertain_significance",
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],
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"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}