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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: 18-12340220-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=12340220&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 12340220,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_006796.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.1961C>T",
"hgvs_p": "p.Thr654Ile",
"transcript": "NM_006796.3",
"protein_id": "NP_006787.2",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 797,
"cds_start": 1961,
"cds_end": null,
"cds_length": 2394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000269143.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006796.3"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.1961C>T",
"hgvs_p": "p.Thr654Ile",
"transcript": "ENST00000269143.8",
"protein_id": "ENSP00000269143.2",
"transcript_support_level": 1,
"aa_start": 654,
"aa_end": null,
"aa_length": 797,
"cds_start": 1961,
"cds_end": null,
"cds_length": 2394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006796.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000269143.8"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.2168C>T",
"hgvs_p": "p.Thr723Ile",
"transcript": "ENST00000889396.1",
"protein_id": "ENSP00000559455.1",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 866,
"cds_start": 2168,
"cds_end": null,
"cds_length": 2601,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889396.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.2105C>T",
"hgvs_p": "p.Thr702Ile",
"transcript": "ENST00000964861.1",
"protein_id": "ENSP00000634920.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 845,
"cds_start": 2105,
"cds_end": null,
"cds_length": 2538,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964861.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.2090C>T",
"hgvs_p": "p.Thr697Ile",
"transcript": "ENST00000889412.1",
"protein_id": "ENSP00000559471.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 840,
"cds_start": 2090,
"cds_end": null,
"cds_length": 2523,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889412.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.2057C>T",
"hgvs_p": "p.Thr686Ile",
"transcript": "ENST00000964858.1",
"protein_id": "ENSP00000634917.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 829,
"cds_start": 2057,
"cds_end": null,
"cds_length": 2490,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964858.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.2030C>T",
"hgvs_p": "p.Thr677Ile",
"transcript": "ENST00000889406.1",
"protein_id": "ENSP00000559465.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 820,
"cds_start": 2030,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889406.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.1982C>T",
"hgvs_p": "p.Thr661Ile",
"transcript": "ENST00000889408.1",
"protein_id": "ENSP00000559467.1",
"transcript_support_level": null,
"aa_start": 661,
"aa_end": null,
"aa_length": 804,
"cds_start": 1982,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889408.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.1961C>T",
"hgvs_p": "p.Thr654Ile",
"transcript": "ENST00000964852.1",
"protein_id": "ENSP00000634911.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 797,
"cds_start": 1961,
"cds_end": null,
"cds_length": 2394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964852.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.1958C>T",
"hgvs_p": "p.Thr653Ile",
"transcript": "ENST00000889395.1",
"protein_id": "ENSP00000559454.1",
"transcript_support_level": null,
"aa_start": 653,
"aa_end": null,
"aa_length": 796,
"cds_start": 1958,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889395.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.1958C>T",
"hgvs_p": "p.Thr653Ile",
"transcript": "ENST00000918897.1",
"protein_id": "ENSP00000588956.1",
"transcript_support_level": null,
"aa_start": 653,
"aa_end": null,
"aa_length": 796,
"cds_start": 1958,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918897.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.1955C>T",
"hgvs_p": "p.Thr652Ile",
"transcript": "ENST00000889407.1",
"protein_id": "ENSP00000559466.1",
"transcript_support_level": null,
"aa_start": 652,
"aa_end": null,
"aa_length": 795,
"cds_start": 1955,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889407.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.1952C>T",
"hgvs_p": "p.Thr651Ile",
"transcript": "ENST00000889398.1",
"protein_id": "ENSP00000559457.1",
"transcript_support_level": null,
"aa_start": 651,
"aa_end": null,
"aa_length": 794,
"cds_start": 1952,
"cds_end": null,
"cds_length": 2385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889398.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.1910C>T",
"hgvs_p": "p.Thr637Ile",
"transcript": "ENST00000889400.1",
"protein_id": "ENSP00000559459.1",
"transcript_support_level": null,
"aa_start": 637,
"aa_end": null,
"aa_length": 780,
"cds_start": 1910,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889400.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.1898C>T",
"hgvs_p": "p.Thr633Ile",
"transcript": "ENST00000918900.1",
"protein_id": "ENSP00000588959.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 776,
"cds_start": 1898,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918900.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.1898C>T",
"hgvs_p": "p.Thr633Ile",
"transcript": "ENST00000964853.1",
"protein_id": "ENSP00000634912.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 776,
"cds_start": 1898,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964853.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.1886C>T",
"hgvs_p": "p.Thr629Ile",
"transcript": "ENST00000691179.1",
"protein_id": "ENSP00000509010.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 772,
"cds_start": 1886,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000691179.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.1883C>T",
"hgvs_p": "p.Thr628Ile",
"transcript": "ENST00000889392.1",
"protein_id": "ENSP00000559451.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 771,
"cds_start": 1883,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889392.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.1880C>T",
"hgvs_p": "p.Thr627Ile",
"transcript": "ENST00000889409.1",
"protein_id": "ENSP00000559468.1",
"transcript_support_level": null,
"aa_start": 627,
"aa_end": null,
"aa_length": 770,
"cds_start": 1880,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889409.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.1880C>T",
"hgvs_p": "p.Thr627Ile",
"transcript": "ENST00000964860.1",
"protein_id": "ENSP00000634919.1",
"transcript_support_level": null,
"aa_start": 627,
"aa_end": null,
"aa_length": 770,
"cds_start": 1880,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964860.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.1877C>T",
"hgvs_p": "p.Thr626Ile",
"transcript": "ENST00000918901.1",
"protein_id": "ENSP00000588960.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 769,
"cds_start": 1877,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918901.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.1850C>T",
"hgvs_p": "p.Thr617Ile",
"transcript": "ENST00000889393.1",
"protein_id": "ENSP00000559452.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 760,
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"computational_score_selected": 0.9678690433502197,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Pathogenic",
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"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.48,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 10.003,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
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"acmg_score": 17,
"acmg_classification": "Pathogenic",
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"acmg_by_gene": [
{
"score": 17,
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"pathogenic_score": 17,
"criteria": [
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"PM2",
"PP2",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_006796.3",
"gene_symbol": "AFG3L2",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1961C>T",
"hgvs_p": "p.Thr654Ile"
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{
"score": 14,
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"criteria": [
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"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000586691.1",
"gene_symbol": "TUBB6",
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"effects": [
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],
"inheritance_mode": "Unknown",
"hgvs_c": "c.86-3829G>A",
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},
{
"score": 14,
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"PP3_Strong",
"PP5_Very_Strong"
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"verdict": "Pathogenic",
"transcript": "XR_001753363.2",
"gene_symbol": "LOC107985154",
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"effects": [
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],
"inheritance_mode": "",
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}
],
"clinvar_disease": "Spinocerebellar ataxia type 28,not provided",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LP:2",
"phenotype_combined": "Spinocerebellar ataxia type 28|not provided",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}