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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: 22-31095346-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=31095346&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 31095346,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000333137.12",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.1676C>T",
"hgvs_p": "p.Ala559Val",
"transcript": "NM_134269.3",
"protein_id": "NP_599031.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 915,
"cds_start": 1676,
"cds_end": null,
"cds_length": 2748,
"cdna_start": 1895,
"cdna_end": null,
"cdna_length": 3296,
"mane_select": "ENST00000333137.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.1676C>T",
"hgvs_p": "p.Ala559Val",
"transcript": "ENST00000333137.12",
"protein_id": "ENSP00000329532.7",
"transcript_support_level": 1,
"aa_start": 559,
"aa_end": null,
"aa_length": 915,
"cds_start": 1676,
"cds_end": null,
"cds_length": 2748,
"cdna_start": 1895,
"cdna_end": null,
"cdna_length": 3296,
"mane_select": "NM_134269.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.1676C>T",
"hgvs_p": "p.Ala559Val",
"transcript": "ENST00000347557.6",
"protein_id": "ENSP00000328635.5",
"transcript_support_level": 1,
"aa_start": 559,
"aa_end": null,
"aa_length": 917,
"cds_start": 1676,
"cds_end": null,
"cds_length": 2754,
"cdna_start": 1894,
"cdna_end": null,
"cdna_length": 3130,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.1958C>T",
"hgvs_p": "p.Ala653Val",
"transcript": "NM_001382642.1",
"protein_id": "NP_001369571.1",
"transcript_support_level": null,
"aa_start": 653,
"aa_end": null,
"aa_length": 1009,
"cds_start": 1958,
"cds_end": null,
"cds_length": 3030,
"cdna_start": 2222,
"cdna_end": null,
"cdna_length": 3623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.1931C>T",
"hgvs_p": "p.Ala644Val",
"transcript": "NM_001207017.1",
"protein_id": "NP_001193946.1",
"transcript_support_level": null,
"aa_start": 644,
"aa_end": null,
"aa_length": 1002,
"cds_start": 1931,
"cds_end": null,
"cds_length": 3009,
"cdna_start": 1992,
"cdna_end": null,
"cdna_length": 3228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.1931C>T",
"hgvs_p": "p.Ala644Val",
"transcript": "ENST00000619644.5",
"protein_id": "ENSP00000484398.1",
"transcript_support_level": 2,
"aa_start": 644,
"aa_end": null,
"aa_length": 1002,
"cds_start": 1931,
"cds_end": null,
"cds_length": 3009,
"cdna_start": 1931,
"cdna_end": null,
"cdna_length": 3009,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.1844C>T",
"hgvs_p": "p.Ala615Val",
"transcript": "NM_001207018.2",
"protein_id": "NP_001193947.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 971,
"cds_start": 1844,
"cds_end": null,
"cds_length": 2916,
"cdna_start": 1921,
"cdna_end": null,
"cdna_length": 3322,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.1844C>T",
"hgvs_p": "p.Ala615Val",
"transcript": "ENST00000612341.4",
"protein_id": "ENSP00000479578.1",
"transcript_support_level": 2,
"aa_start": 615,
"aa_end": null,
"aa_length": 971,
"cds_start": 1844,
"cds_end": null,
"cds_length": 2916,
"cdna_start": 1921,
"cdna_end": null,
"cdna_length": 3321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.1838C>T",
"hgvs_p": "p.Ala613Val",
"transcript": "NM_001382643.1",
"protein_id": "NP_001369572.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 969,
"cds_start": 1838,
"cds_end": null,
"cds_length": 2910,
"cdna_start": 2112,
"cdna_end": null,
"cdna_length": 3513,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.1838C>T",
"hgvs_p": "p.Ala613Val",
"transcript": "NM_001382644.1",
"protein_id": "NP_001369573.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 969,
"cds_start": 1838,
"cds_end": null,
"cds_length": 2910,
"cdna_start": 1982,
"cdna_end": null,
"cdna_length": 3383,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.1838C>T",
"hgvs_p": "p.Ala613Val",
"transcript": "ENST00000440425.6",
"protein_id": "ENSP00000401341.2",
"transcript_support_level": 4,
"aa_start": 613,
"aa_end": null,
"aa_length": 968,
"cds_start": 1838,
"cds_end": null,
"cds_length": 2907,
"cdna_start": 1992,
"cdna_end": null,
"cdna_length": 3322,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.1769C>T",
"hgvs_p": "p.Ala590Val",
"transcript": "NM_001382645.1",
"protein_id": "NP_001369574.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 946,
"cds_start": 1769,
"cds_end": null,
"cds_length": 2841,
"cdna_start": 2224,
"cdna_end": null,
"cdna_length": 3625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.1676C>T",
"hgvs_p": "p.Ala559Val",
"transcript": "NM_134270.3",
"protein_id": "NP_599032.2",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 940,
"cds_start": 1676,
"cds_end": null,
"cds_length": 2823,
"cdna_start": 1895,
"cdna_end": null,
"cdna_length": 3200,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.1676C>T",
"hgvs_p": "p.Ala559Val",
"transcript": "ENST00000358743.5",
"protein_id": "ENSP00000351593.1",
"transcript_support_level": 2,
"aa_start": 559,
"aa_end": null,
"aa_length": 940,
"cds_start": 1676,
"cds_end": null,
"cds_length": 2823,
"cdna_start": 1894,
"cdna_end": null,
"cdna_length": 3198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.1676C>T",
"hgvs_p": "p.Ala559Val",
"transcript": "NM_006932.5",
"protein_id": "NP_008863.3",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 917,
"cds_start": 1676,
"cds_end": null,
"cds_length": 2754,
"cdna_start": 1895,
"cdna_end": null,
"cdna_length": 3131,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.1676C>T",
"hgvs_p": "p.Ala559Val",
"transcript": "NM_001382638.1",
"protein_id": "NP_001369567.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 915,
"cds_start": 1676,
"cds_end": null,
"cds_length": 2748,
"cdna_start": 2025,
"cdna_end": null,
"cdna_length": 3426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.1676C>T",
"hgvs_p": "p.Ala559Val",
"transcript": "NM_001382639.1",
"protein_id": "NP_001369568.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 915,
"cds_start": 1676,
"cds_end": null,
"cds_length": 2748,
"cdna_start": 2390,
"cdna_end": null,
"cdna_length": 3791,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.1676C>T",
"hgvs_p": "p.Ala559Val",
"transcript": "NM_001382640.1",
"protein_id": "NP_001369569.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 915,
"cds_start": 1676,
"cds_end": null,
"cds_length": 2748,
"cdna_start": 1826,
"cdna_end": null,
"cdna_length": 3227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.1676C>T",
"hgvs_p": "p.Ala559Val",
"transcript": "NM_001382641.1",
"protein_id": "NP_001369570.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 915,
"cds_start": 1676,
"cds_end": null,
"cds_length": 2748,
"cdna_start": 2131,
"cdna_end": null,
"cdna_length": 3532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.1676C>T",
"hgvs_p": "p.Ala559Val",
"transcript": "NM_001382646.1",
"protein_id": "NP_001369575.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 870,
"cds_start": 1676,
"cds_end": null,
"cds_length": 2613,
"cdna_start": 1895,
"cdna_end": null,
"cdna_length": 3178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.1676C>T",
"hgvs_p": "p.Ala559Val",
"transcript": "NM_001382647.1",
"protein_id": "NP_001369576.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 839,
"cds_start": 1676,
"cds_end": null,
"cds_length": 2520,
"cdna_start": 2131,
"cdna_end": null,
"cdna_length": 3304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.650C>T",
"hgvs_p": "p.Ala217Val",
"transcript": "NM_001382648.1",
"protein_id": "NP_001369577.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 573,
"cds_start": 650,
"cds_end": null,
"cds_length": 1722,
"cdna_start": 2098,
"cdna_end": null,
"cdna_length": 3499,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.473C>T",
"hgvs_p": "p.Ala158Val",
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"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000333137.12",
"gene_symbol": "SMTN",
"hgnc_id": 11126,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1676C>T",
"hgvs_p": "p.Ala559Val"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}