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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: 1-28690120-TC-CT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=28690120&ref=TC&alt=CT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "GMEB1",
"hgnc_id": 4370,
"hgvs_c": "c.175_176delTCinsCT",
"hgvs_p": "p.Ser59Leu",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_006582.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 563,
"aa_ref": "S",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6358,
"cdna_start": 231,
"cds_end": null,
"cds_length": 1692,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001319674.2",
"gene_hgnc_id": 4370,
"gene_symbol": "GMEB1",
"hgvs_c": "c.145_146delTCinsCT",
"hgvs_p": "p.Ser49Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000373816.6",
"protein_coding": true,
"protein_id": "NP_001306603.1",
"strand": true,
"transcript": "NM_001319674.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 563,
"aa_ref": "S",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6358,
"cdna_start": 231,
"cds_end": null,
"cds_length": 1692,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000373816.6",
"gene_hgnc_id": 4370,
"gene_symbol": "GMEB1",
"hgvs_c": "c.145_146delTCinsCT",
"hgvs_p": "p.Ser49Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001319674.2",
"protein_coding": true,
"protein_id": "ENSP00000362922.1",
"strand": true,
"transcript": "ENST00000373816.6",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 573,
"aa_ref": "S",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1912,
"cdna_start": 265,
"cds_end": null,
"cds_length": 1722,
"cds_start": 175,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000294409.2",
"gene_hgnc_id": 4370,
"gene_symbol": "GMEB1",
"hgvs_c": "c.175_176delTCinsCT",
"hgvs_p": "p.Ser59Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000294409.2",
"strand": true,
"transcript": "ENST00000294409.2",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 563,
"aa_ref": "S",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1894,
"cdna_start": 234,
"cds_end": null,
"cds_length": 1692,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000361872.8",
"gene_hgnc_id": 4370,
"gene_symbol": "GMEB1",
"hgvs_c": "c.145_146delTCinsCT",
"hgvs_p": "p.Ser49Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000355186.4",
"strand": true,
"transcript": "ENST00000361872.8",
"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": 2063,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000480454.1",
"gene_hgnc_id": 4370,
"gene_symbol": "GMEB1",
"hgvs_c": "n.224_225delTCinsCT",
"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": "ENST00000480454.1",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 573,
"aa_ref": "S",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6388,
"cdna_start": 261,
"cds_end": null,
"cds_length": 1722,
"cds_start": 175,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_006582.4",
"gene_hgnc_id": 4370,
"gene_symbol": "GMEB1",
"hgvs_c": "c.175_176delTCinsCT",
"hgvs_p": "p.Ser59Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_006573.2",
"strand": true,
"transcript": "NM_006582.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 573,
"aa_ref": "S",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3274,
"cdna_start": 551,
"cds_end": null,
"cds_length": 1722,
"cds_start": 175,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000853890.1",
"gene_hgnc_id": 4370,
"gene_symbol": "GMEB1",
"hgvs_c": "c.175_176delTCinsCT",
"hgvs_p": "p.Ser59Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523949.1",
"strand": true,
"transcript": "ENST00000853890.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 573,
"aa_ref": "S",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2721,
"cdna_start": 324,
"cds_end": null,
"cds_length": 1722,
"cds_start": 175,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000853892.1",
"gene_hgnc_id": 4370,
"gene_symbol": "GMEB1",
"hgvs_c": "c.175_176delTCinsCT",
"hgvs_p": "p.Ser59Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523951.1",
"strand": true,
"transcript": "ENST00000853892.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 573,
"aa_ref": "S",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1963,
"cdna_start": 316,
"cds_end": null,
"cds_length": 1722,
"cds_start": 175,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000853895.1",
"gene_hgnc_id": 4370,
"gene_symbol": "GMEB1",
"hgvs_c": "c.175_176delTCinsCT",
"hgvs_p": "p.Ser59Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523954.1",
"strand": true,
"transcript": "ENST00000853895.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 573,
"aa_ref": "S",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2649,
"cdna_start": 272,
"cds_end": null,
"cds_length": 1722,
"cds_start": 175,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000853897.1",
"gene_hgnc_id": 4370,
"gene_symbol": "GMEB1",
"hgvs_c": "c.175_176delTCinsCT",
"hgvs_p": "p.Ser59Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523956.1",
"strand": true,
"transcript": "ENST00000853897.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 573,
"aa_ref": "S",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3169,
"cdna_start": 446,
"cds_end": null,
"cds_length": 1722,
"cds_start": 175,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000940222.1",
"gene_hgnc_id": 4370,
"gene_symbol": "GMEB1",
"hgvs_c": "c.175_176delTCinsCT",
"hgvs_p": "p.Ser59Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610281.1",
"strand": true,
"transcript": "ENST00000940222.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 571,
"aa_ref": "S",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1899,
"cdna_start": 258,
"cds_end": null,
"cds_length": 1716,
"cds_start": 175,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000941584.1",
"gene_hgnc_id": 4370,
"gene_symbol": "GMEB1",
"hgvs_c": "c.175_176delTCinsCT",
"hgvs_p": "p.Ser59Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611643.1",
"strand": true,
"transcript": "ENST00000941584.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 563,
"aa_ref": "S",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6355,
"cdna_start": 228,
"cds_end": null,
"cds_length": 1692,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_024482.3",
"gene_hgnc_id": 4370,
"gene_symbol": "GMEB1",
"hgvs_c": "c.145_146delTCinsCT",
"hgvs_p": "p.Ser49Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_077808.1",
"strand": true,
"transcript": "NM_024482.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 563,
"aa_ref": "S",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3222,
"cdna_start": 518,
"cds_end": null,
"cds_length": 1692,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000853891.1",
"gene_hgnc_id": 4370,
"gene_symbol": "GMEB1",
"hgvs_c": "c.145_146delTCinsCT",
"hgvs_p": "p.Ser49Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523950.1",
"strand": true,
"transcript": "ENST00000853891.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 563,
"aa_ref": "S",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2032,
"cdna_start": 385,
"cds_end": null,
"cds_length": 1692,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000853898.1",
"gene_hgnc_id": 4370,
"gene_symbol": "GMEB1",
"hgvs_c": "c.145_146delTCinsCT",
"hgvs_p": "p.Ser49Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523957.1",
"strand": true,
"transcript": "ENST00000853898.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 563,
"aa_ref": "S",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3033,
"cdna_start": 1347,
"cds_end": null,
"cds_length": 1692,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000853899.1",
"gene_hgnc_id": 4370,
"gene_symbol": "GMEB1",
"hgvs_c": "c.145_146delTCinsCT",
"hgvs_p": "p.Ser49Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523958.1",
"strand": true,
"transcript": "ENST00000853899.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 563,
"aa_ref": "S",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2625,
"cdna_start": 245,
"cds_end": null,
"cds_length": 1692,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000940223.1",
"gene_hgnc_id": 4370,
"gene_symbol": "GMEB1",
"hgvs_c": "c.145_146delTCinsCT",
"hgvs_p": "p.Ser49Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610282.1",
"strand": true,
"transcript": "ENST00000940223.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 563,
"aa_ref": "S",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2116,
"cdna_start": 430,
"cds_end": null,
"cds_length": 1692,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000940225.1",
"gene_hgnc_id": 4370,
"gene_symbol": "GMEB1",
"hgvs_c": "c.145_146delTCinsCT",
"hgvs_p": "p.Ser49Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610284.1",
"strand": true,
"transcript": "ENST00000940225.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 563,
"aa_ref": "S",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1984,
"cdna_start": 319,
"cds_end": null,
"cds_length": 1692,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000940226.1",
"gene_hgnc_id": 4370,
"gene_symbol": "GMEB1",
"hgvs_c": "c.145_146delTCinsCT",
"hgvs_p": "p.Ser49Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610285.1",
"strand": true,
"transcript": "ENST00000940226.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 563,
"aa_ref": "S",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2427,
"cdna_start": 400,
"cds_end": null,
"cds_length": 1692,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000940227.1",
"gene_hgnc_id": 4370,
"gene_symbol": "GMEB1",
"hgvs_c": "c.145_146delTCinsCT",
"hgvs_p": "p.Ser49Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610286.1",
"strand": true,
"transcript": "ENST00000940227.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 563,
"aa_ref": "S",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1992,
"cdna_start": 322,
"cds_end": null,
"cds_length": 1692,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000940228.1",
"gene_hgnc_id": 4370,
"gene_symbol": "GMEB1",
"hgvs_c": "c.145_146delTCinsCT",
"hgvs_p": "p.Ser49Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
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