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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: 7-107776693-TGC-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=107776693&ref=TGC&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 107776693,
"ref": "TGC",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "NM_000111.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A3",
"gene_hgnc_id": 3018,
"hgvs_c": "c.1526_1527delGC",
"hgvs_p": "p.Ser509fs",
"transcript": "NM_000111.3",
"protein_id": "NP_000102.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 764,
"cds_start": 1526,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000340010.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000111.3"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A3",
"gene_hgnc_id": 3018,
"hgvs_c": "c.1526_1527delGC",
"hgvs_p": "p.Ser509fs",
"transcript": "ENST00000340010.10",
"protein_id": "ENSP00000345873.5",
"transcript_support_level": 1,
"aa_start": 509,
"aa_end": null,
"aa_length": 764,
"cds_start": 1526,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000111.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340010.10"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A3",
"gene_hgnc_id": 3018,
"hgvs_c": "c.1526_1527delGC",
"hgvs_p": "p.Ser509fs",
"transcript": "ENST00000852261.1",
"protein_id": "ENSP00000522320.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 771,
"cds_start": 1526,
"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": "ENST00000852261.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A3",
"gene_hgnc_id": 3018,
"hgvs_c": "c.1526_1527delGC",
"hgvs_p": "p.Ser509fs",
"transcript": "ENST00000852262.1",
"protein_id": "ENSP00000522321.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 769,
"cds_start": 1526,
"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": "ENST00000852262.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A3",
"gene_hgnc_id": 3018,
"hgvs_c": "c.1526_1527delGC",
"hgvs_p": "p.Ser509fs",
"transcript": "ENST00000852250.1",
"protein_id": "ENSP00000522309.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 764,
"cds_start": 1526,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852250.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A3",
"gene_hgnc_id": 3018,
"hgvs_c": "c.1526_1527delGC",
"hgvs_p": "p.Ser509fs",
"transcript": "ENST00000852251.1",
"protein_id": "ENSP00000522310.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 764,
"cds_start": 1526,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852251.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A3",
"gene_hgnc_id": 3018,
"hgvs_c": "c.1526_1527delGC",
"hgvs_p": "p.Ser509fs",
"transcript": "ENST00000852254.1",
"protein_id": "ENSP00000522313.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 764,
"cds_start": 1526,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852254.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A3",
"gene_hgnc_id": 3018,
"hgvs_c": "c.1526_1527delGC",
"hgvs_p": "p.Ser509fs",
"transcript": "ENST00000852257.1",
"protein_id": "ENSP00000522316.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 764,
"cds_start": 1526,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852257.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A3",
"gene_hgnc_id": 3018,
"hgvs_c": "c.1526_1527delGC",
"hgvs_p": "p.Ser509fs",
"transcript": "ENST00000852263.1",
"protein_id": "ENSP00000522322.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 764,
"cds_start": 1526,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852263.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A3",
"gene_hgnc_id": 3018,
"hgvs_c": "c.1526_1527delGC",
"hgvs_p": "p.Ser509fs",
"transcript": "ENST00000852270.1",
"protein_id": "ENSP00000522329.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 764,
"cds_start": 1526,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852270.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A3",
"gene_hgnc_id": 3018,
"hgvs_c": "c.1523_1524delGC",
"hgvs_p": "p.Ser508fs",
"transcript": "ENST00000852259.1",
"protein_id": "ENSP00000522318.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 763,
"cds_start": 1523,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852259.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A3",
"gene_hgnc_id": 3018,
"hgvs_c": "c.1520_1521delGC",
"hgvs_p": "p.Ser507fs",
"transcript": "ENST00000852264.1",
"protein_id": "ENSP00000522323.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 762,
"cds_start": 1520,
"cds_end": null,
"cds_length": 2289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852264.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A3",
"gene_hgnc_id": 3018,
"hgvs_c": "c.1526_1527delGC",
"hgvs_p": "p.Ser509fs",
"transcript": "ENST00000852256.1",
"protein_id": "ENSP00000522315.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 758,
"cds_start": 1526,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852256.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A3",
"gene_hgnc_id": 3018,
"hgvs_c": "c.1475_1476delGC",
"hgvs_p": "p.Ser492fs",
"transcript": "ENST00000852267.1",
"protein_id": "ENSP00000522326.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 747,
"cds_start": 1475,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852267.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A3",
"gene_hgnc_id": 3018,
"hgvs_c": "c.1472_1473delGC",
"hgvs_p": "p.Ser491fs",
"transcript": "ENST00000852258.1",
"protein_id": "ENSP00000522317.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 746,
"cds_start": 1472,
"cds_end": null,
"cds_length": 2241,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852258.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A3",
"gene_hgnc_id": 3018,
"hgvs_c": "c.1526_1527delGC",
"hgvs_p": "p.Ser509fs",
"transcript": "ENST00000852269.1",
"protein_id": "ENSP00000522328.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 742,
"cds_start": 1526,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852269.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A3",
"gene_hgnc_id": 3018,
"hgvs_c": "c.1526_1527delGC",
"hgvs_p": "p.Ser509fs",
"transcript": "ENST00000852252.1",
"protein_id": "ENSP00000522311.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 732,
"cds_start": 1526,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852252.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A3",
"gene_hgnc_id": 3018,
"hgvs_c": "c.1430_1431delGC",
"hgvs_p": "p.Ser477fs",
"transcript": "ENST00000852265.1",
"protein_id": "ENSP00000522324.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 732,
"cds_start": 1430,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852265.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A3",
"gene_hgnc_id": 3018,
"hgvs_c": "c.1415_1416delGC",
"hgvs_p": "p.Ser472fs",
"transcript": "ENST00000852253.1",
"protein_id": "ENSP00000522312.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 727,
"cds_start": 1415,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852253.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A3",
"gene_hgnc_id": 3018,
"hgvs_c": "c.1412_1413delGC",
"hgvs_p": "p.Ser471fs",
"transcript": "ENST00000852268.1",
"protein_id": "ENSP00000522327.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 726,
"cds_start": 1412,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852268.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A3",
"gene_hgnc_id": 3018,
"hgvs_c": "c.1373_1374delGC",
"hgvs_p": "p.Ser458fs",
"transcript": "ENST00000852255.1",
"protein_id": "ENSP00000522314.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 713,
"cds_start": 1373,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852255.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A3",
"gene_hgnc_id": 3018,
"hgvs_c": "c.1361_1362delGC",
"hgvs_p": "p.Ser454fs",
"transcript": "ENST00000852271.1",
"protein_id": "ENSP00000522330.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
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],
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"hom_count_reference_population": 0,
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
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{
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"PM2",
"PP5"
],
"verdict": "Pathogenic",
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],
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}
],
"clinvar_disease": " chloride type,Congenital secretory diarrhea",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Congenital secretory diarrhea, chloride type",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}