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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: 18-51078319-GT-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=51078319&ref=GT&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 51078319,
"ref": "GT",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "NM_005359.6",
"consequences": [
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "c.1515delT",
"hgvs_p": "p.Phe505fs",
"transcript": "NM_005359.6",
"protein_id": "NP_005350.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 552,
"cds_start": 1515,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000342988.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005359.6"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "c.1515delT",
"hgvs_p": "p.Phe505fs",
"transcript": "ENST00000342988.8",
"protein_id": "ENSP00000341551.3",
"transcript_support_level": 5,
"aa_start": 505,
"aa_end": null,
"aa_length": 552,
"cds_start": 1515,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005359.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342988.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "n.3516delT",
"hgvs_p": null,
"transcript": "ENST00000591126.5",
"protein_id": null,
"transcript_support_level": 1,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000591126.5"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "c.1596delT",
"hgvs_p": "p.Phe532fs",
"transcript": "ENST00000714264.1",
"protein_id": "ENSP00000519545.1",
"transcript_support_level": null,
"aa_start": 532,
"aa_end": null,
"aa_length": 579,
"cds_start": 1596,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714264.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "c.1596delT",
"hgvs_p": "p.Phe532fs",
"transcript": "ENST00000877432.1",
"protein_id": "ENSP00000547491.1",
"transcript_support_level": null,
"aa_start": 532,
"aa_end": null,
"aa_length": 579,
"cds_start": 1596,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877432.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "c.1593delT",
"hgvs_p": "p.Phe531fs",
"transcript": "ENST00000714270.1",
"protein_id": "ENSP00000519551.1",
"transcript_support_level": null,
"aa_start": 531,
"aa_end": null,
"aa_length": 578,
"cds_start": 1593,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714270.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "c.1554delT",
"hgvs_p": "p.Phe518fs",
"transcript": "ENST00000714261.1",
"protein_id": "ENSP00000519542.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 565,
"cds_start": 1554,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714261.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "c.1515delT",
"hgvs_p": "p.Phe505fs",
"transcript": "NM_001407041.1",
"protein_id": "NP_001393970.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 552,
"cds_start": 1515,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407041.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "c.1515delT",
"hgvs_p": "p.Phe505fs",
"transcript": "NM_001407042.1",
"protein_id": "NP_001393971.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 552,
"cds_start": 1515,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407042.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "c.1515delT",
"hgvs_p": "p.Phe505fs",
"transcript": "ENST00000398417.6",
"protein_id": "ENSP00000381452.1",
"transcript_support_level": 5,
"aa_start": 505,
"aa_end": null,
"aa_length": 552,
"cds_start": 1515,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398417.6"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "c.1515delT",
"hgvs_p": "p.Phe505fs",
"transcript": "ENST00000588860.6",
"protein_id": "ENSP00000465878.2",
"transcript_support_level": 4,
"aa_start": 505,
"aa_end": null,
"aa_length": 552,
"cds_start": 1515,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000588860.6"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "c.1515delT",
"hgvs_p": "p.Phe505fs",
"transcript": "ENST00000589076.6",
"protein_id": "ENSP00000466934.2",
"transcript_support_level": 5,
"aa_start": 505,
"aa_end": null,
"aa_length": 552,
"cds_start": 1515,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589076.6"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "c.1515delT",
"hgvs_p": "p.Phe505fs",
"transcript": "ENST00000589941.2",
"protein_id": "ENSP00000465874.2",
"transcript_support_level": 3,
"aa_start": 505,
"aa_end": null,
"aa_length": 552,
"cds_start": 1515,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589941.2"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "c.1515delT",
"hgvs_p": "p.Phe505fs",
"transcript": "ENST00000590061.2",
"protein_id": "ENSP00000464772.2",
"transcript_support_level": 4,
"aa_start": 505,
"aa_end": null,
"aa_length": 552,
"cds_start": 1515,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590061.2"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "c.1515delT",
"hgvs_p": "p.Phe505fs",
"transcript": "ENST00000971069.1",
"protein_id": "ENSP00000641128.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 552,
"cds_start": 1515,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971069.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "c.1506delT",
"hgvs_p": "p.Phe502fs",
"transcript": "ENST00000971072.1",
"protein_id": "ENSP00000641131.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 549,
"cds_start": 1506,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971072.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "c.1497delT",
"hgvs_p": "p.Phe499fs",
"transcript": "ENST00000971071.1",
"protein_id": "ENSP00000641130.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 546,
"cds_start": 1497,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971071.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "c.1491delT",
"hgvs_p": "p.Phe497fs",
"transcript": "ENST00000714272.1",
"protein_id": "ENSP00000519553.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 544,
"cds_start": 1491,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714272.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "c.1485delT",
"hgvs_p": "p.Phe495fs",
"transcript": "ENST00000714268.1",
"protein_id": "ENSP00000519549.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 542,
"cds_start": 1485,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714268.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "c.1485delT",
"hgvs_p": "p.Phe495fs",
"transcript": "ENST00000971070.1",
"protein_id": "ENSP00000641129.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 542,
"cds_start": 1485,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971070.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "c.1398delT",
"hgvs_p": "p.Phe466fs",
"transcript": "ENST00000971068.1",
"protein_id": "ENSP00000641127.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 513,
"cds_start": 1398,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971068.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "c.1359delT",
"hgvs_p": "p.Phe453fs",
"transcript": "ENST00000932319.1",
"protein_id": "ENSP00000602378.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 500,
"cds_start": 1359,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932319.1"
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],
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"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1 LP:1",
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"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
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}