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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: 22-37620297-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=37620297&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 37620297,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001363771.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA1",
"gene_hgnc_id": 17842,
"hgvs_c": "c.363C>G",
"hgvs_p": "p.Ser121Arg",
"transcript": "NM_013365.5",
"protein_id": "NP_037497.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 639,
"cds_start": 363,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 390,
"cdna_end": null,
"cdna_length": 2800,
"mane_select": "ENST00000343632.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013365.5"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA1",
"gene_hgnc_id": 17842,
"hgvs_c": "c.363C>G",
"hgvs_p": "p.Ser121Arg",
"transcript": "ENST00000343632.9",
"protein_id": "ENSP00000341344.4",
"transcript_support_level": 1,
"aa_start": 121,
"aa_end": null,
"aa_length": 639,
"cds_start": 363,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 390,
"cdna_end": null,
"cdna_length": 2800,
"mane_select": "NM_013365.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000343632.9"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA1",
"gene_hgnc_id": 17842,
"hgvs_c": "c.414C>G",
"hgvs_p": "p.Ser138Arg",
"transcript": "ENST00000381756.9",
"protein_id": "ENSP00000371175.5",
"transcript_support_level": 1,
"aa_start": 138,
"aa_end": null,
"aa_length": 656,
"cds_start": 414,
"cds_end": null,
"cds_length": 1971,
"cdna_start": 550,
"cdna_end": null,
"cdna_length": 2107,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381756.9"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA1",
"gene_hgnc_id": 17842,
"hgvs_c": "c.363C>G",
"hgvs_p": "p.Ser121Arg",
"transcript": "ENST00000325180.12",
"protein_id": "ENSP00000321288.8",
"transcript_support_level": 1,
"aa_start": 121,
"aa_end": null,
"aa_length": 552,
"cds_start": 363,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 379,
"cdna_end": null,
"cdna_length": 2528,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000325180.12"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA1",
"gene_hgnc_id": 17842,
"hgvs_c": "c.363C>G",
"hgvs_p": "p.Ser121Arg",
"transcript": "ENST00000851285.1",
"protein_id": "ENSP00000521344.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 679,
"cds_start": 363,
"cds_end": null,
"cds_length": 2040,
"cdna_start": 387,
"cdna_end": null,
"cdna_length": 2917,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851285.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA1",
"gene_hgnc_id": 17842,
"hgvs_c": "c.363C>G",
"hgvs_p": "p.Ser121Arg",
"transcript": "ENST00000937679.1",
"protein_id": "ENSP00000607738.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 669,
"cds_start": 363,
"cds_end": null,
"cds_length": 2010,
"cdna_start": 389,
"cdna_end": null,
"cdna_length": 2889,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937679.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA1",
"gene_hgnc_id": 17842,
"hgvs_c": "c.414C>G",
"hgvs_p": "p.Ser138Arg",
"transcript": "NM_001363771.2",
"protein_id": "NP_001350700.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 656,
"cds_start": 414,
"cds_end": null,
"cds_length": 1971,
"cdna_start": 441,
"cdna_end": null,
"cdna_length": 2851,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363771.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA1",
"gene_hgnc_id": 17842,
"hgvs_c": "c.363C>G",
"hgvs_p": "p.Ser121Arg",
"transcript": "ENST00000851288.1",
"protein_id": "ENSP00000521347.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 653,
"cds_start": 363,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 371,
"cdna_end": null,
"cdna_length": 2822,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851288.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA1",
"gene_hgnc_id": 17842,
"hgvs_c": "c.363C>G",
"hgvs_p": "p.Ser121Arg",
"transcript": "ENST00000937681.1",
"protein_id": "ENSP00000607740.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 653,
"cds_start": 363,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 376,
"cdna_end": null,
"cdna_length": 2828,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937681.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA1",
"gene_hgnc_id": 17842,
"hgvs_c": "c.363C>G",
"hgvs_p": "p.Ser121Arg",
"transcript": "ENST00000937680.1",
"protein_id": "ENSP00000607739.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 649,
"cds_start": 363,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 387,
"cdna_end": null,
"cdna_length": 2820,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937680.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA1",
"gene_hgnc_id": 17842,
"hgvs_c": "c.363C>G",
"hgvs_p": "p.Ser121Arg",
"transcript": "ENST00000715689.1",
"protein_id": "ENSP00000520500.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 639,
"cds_start": 363,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 750,
"cdna_end": null,
"cdna_length": 3160,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000715689.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA1",
"gene_hgnc_id": 17842,
"hgvs_c": "c.363C>G",
"hgvs_p": "p.Ser121Arg",
"transcript": "ENST00000851284.1",
"protein_id": "ENSP00000521343.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 638,
"cds_start": 363,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 387,
"cdna_end": null,
"cdna_length": 2794,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851284.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA1",
"gene_hgnc_id": 17842,
"hgvs_c": "c.363C>G",
"hgvs_p": "p.Ser121Arg",
"transcript": "NM_001172687.2",
"protein_id": "NP_001166158.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 635,
"cds_start": 363,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 390,
"cdna_end": null,
"cdna_length": 2788,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001172687.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA1",
"gene_hgnc_id": 17842,
"hgvs_c": "c.363C>G",
"hgvs_p": "p.Ser121Arg",
"transcript": "ENST00000957662.1",
"protein_id": "ENSP00000627721.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 635,
"cds_start": 363,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 387,
"cdna_end": null,
"cdna_length": 2784,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957662.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA1",
"gene_hgnc_id": 17842,
"hgvs_c": "c.363C>G",
"hgvs_p": "p.Ser121Arg",
"transcript": "ENST00000851286.1",
"protein_id": "ENSP00000521345.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 603,
"cds_start": 363,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 387,
"cdna_end": null,
"cdna_length": 2686,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851286.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA1",
"gene_hgnc_id": 17842,
"hgvs_c": "c.363C>G",
"hgvs_p": "p.Ser121Arg",
"transcript": "ENST00000957660.1",
"protein_id": "ENSP00000627719.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 594,
"cds_start": 363,
"cds_end": null,
"cds_length": 1785,
"cdna_start": 395,
"cdna_end": null,
"cdna_length": 2670,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957660.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA1",
"gene_hgnc_id": 17842,
"hgvs_c": "c.363C>G",
"hgvs_p": "p.Ser121Arg",
"transcript": "ENST00000957661.1",
"protein_id": "ENSP00000627720.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 592,
"cds_start": 363,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 390,
"cdna_end": null,
"cdna_length": 2658,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957661.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA1",
"gene_hgnc_id": 17842,
"hgvs_c": "c.363C>G",
"hgvs_p": "p.Ser121Arg",
"transcript": "ENST00000851283.1",
"protein_id": "ENSP00000521342.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 588,
"cds_start": 363,
"cds_end": null,
"cds_length": 1767,
"cdna_start": 390,
"cdna_end": null,
"cdna_length": 2647,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851283.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA1",
"gene_hgnc_id": 17842,
"hgvs_c": "c.144C>G",
"hgvs_p": "p.Ser48Arg",
"transcript": "NM_001172688.2",
"protein_id": "NP_001166159.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 566,
"cds_start": 144,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 796,
"cdna_end": null,
"cdna_length": 3206,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001172688.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA1",
"gene_hgnc_id": 17842,
"hgvs_c": "c.144C>G",
"hgvs_p": "p.Ser48Arg",
"transcript": "ENST00000406772.5",
"protein_id": "ENSP00000385287.1",
"transcript_support_level": 2,
"aa_start": 48,
"aa_end": null,
"aa_length": 566,
"cds_start": 144,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 796,
"cdna_end": null,
"cdna_length": 3205,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406772.5"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA1",
"gene_hgnc_id": 17842,
"hgvs_c": "c.363C>G",
"hgvs_p": "p.Ser121Arg",
"transcript": "NM_001001560.3",
"protein_id": "NP_001001560.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 552,
"cds_start": 363,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 390,
"cdna_end": null,
"cdna_length": 2539,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001001560.3"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA1",
"gene_hgnc_id": 17842,
"hgvs_c": "c.363C>G",
"hgvs_p": "p.Ser121Arg",
"transcript": "ENST00000957663.1",
"protein_id": "ENSP00000627722.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 551,
"cds_start": 363,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 387,
"cdna_end": null,
"cdna_length": 2531,
"mane_select": null,
"mane_plus": null,
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"bayesdelnoaf_score": -0.1,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.95,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.17,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001363771.2",
"gene_symbol": "GGA1",
"hgnc_id": 17842,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.414C>G",
"hgvs_p": "p.Ser138Arg"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}