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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: 1-154601699-CAG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=154601699&ref=CAG&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 154601699,
"ref": "CAG",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "NM_001365045.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.941_942delCT",
"hgvs_p": "p.Ser314fs",
"transcript": "NM_001111.5",
"protein_id": "NP_001102.3",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 1226,
"cds_start": 941,
"cds_end": null,
"cds_length": 3681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000368474.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001111.5"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.941_942delCT",
"hgvs_p": "p.Ser314fs",
"transcript": "ENST00000368474.9",
"protein_id": "ENSP00000357459.4",
"transcript_support_level": 1,
"aa_start": 314,
"aa_end": null,
"aa_length": 1226,
"cds_start": 941,
"cds_end": null,
"cds_length": 3681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001111.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368474.9"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.56_57delCT",
"hgvs_p": "p.Ser19fs",
"transcript": "ENST00000368471.8",
"protein_id": "ENSP00000357456.3",
"transcript_support_level": 1,
"aa_start": 19,
"aa_end": null,
"aa_length": 931,
"cds_start": 56,
"cds_end": null,
"cds_length": 2796,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368471.8"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.971_972delCT",
"hgvs_p": "p.Ser324fs",
"transcript": "ENST00000649724.2",
"protein_id": "ENSP00000497932.2",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 1236,
"cds_start": 971,
"cds_end": null,
"cds_length": 3711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649724.2"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.968_969delCT",
"hgvs_p": "p.Ser323fs",
"transcript": "NM_001365045.1",
"protein_id": "NP_001351974.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 1235,
"cds_start": 968,
"cds_end": null,
"cds_length": 3708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365045.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.941_942delCT",
"hgvs_p": "p.Ser314fs",
"transcript": "ENST00000970492.1",
"protein_id": "ENSP00000640551.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 1230,
"cds_start": 941,
"cds_end": null,
"cds_length": 3693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970492.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.941_942delCT",
"hgvs_p": "p.Ser314fs",
"transcript": "ENST00000713626.1",
"protein_id": "ENSP00000518924.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 1220,
"cds_start": 941,
"cds_end": null,
"cds_length": 3663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713626.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.941_942delCT",
"hgvs_p": "p.Ser314fs",
"transcript": "NM_015840.4",
"protein_id": "NP_056655.3",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 1200,
"cds_start": 941,
"cds_end": null,
"cds_length": 3603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015840.4"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.941_942delCT",
"hgvs_p": "p.Ser314fs",
"transcript": "ENST00000529168.2",
"protein_id": "ENSP00000431794.2",
"transcript_support_level": 5,
"aa_start": 314,
"aa_end": null,
"aa_length": 1200,
"cds_start": 941,
"cds_end": null,
"cds_length": 3603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529168.2"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.824_825delCT",
"hgvs_p": "p.Ser275fs",
"transcript": "ENST00000680270.2",
"protein_id": "ENSP00000505532.2",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 1187,
"cds_start": 824,
"cds_end": null,
"cds_length": 3564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680270.2"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.941_942delCT",
"hgvs_p": "p.Ser314fs",
"transcript": "NM_015841.4",
"protein_id": "NP_056656.3",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 1181,
"cds_start": 941,
"cds_end": null,
"cds_length": 3546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015841.4"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.941_942delCT",
"hgvs_p": "p.Ser314fs",
"transcript": "ENST00000921186.1",
"protein_id": "ENSP00000591245.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 1181,
"cds_start": 941,
"cds_end": null,
"cds_length": 3546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921186.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.941_942delCT",
"hgvs_p": "p.Ser314fs",
"transcript": "ENST00000680305.1",
"protein_id": "ENSP00000506312.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 1165,
"cds_start": 941,
"cds_end": null,
"cds_length": 3498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680305.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.593_594delCT",
"hgvs_p": "p.Ser198fs",
"transcript": "ENST00000681056.2",
"protein_id": "ENSP00000506234.2",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 1110,
"cds_start": 593,
"cds_end": null,
"cds_length": 3333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681056.2"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.56_57delCT",
"hgvs_p": "p.Ser19fs",
"transcript": "NM_001025107.3",
"protein_id": "NP_001020278.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 931,
"cds_start": 56,
"cds_end": null,
"cds_length": 2796,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001025107.3"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.56_57delCT",
"hgvs_p": "p.Ser19fs",
"transcript": "NM_001193495.2",
"protein_id": "NP_001180424.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 931,
"cds_start": 56,
"cds_end": null,
"cds_length": 2796,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193495.2"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.56_57delCT",
"hgvs_p": "p.Ser19fs",
"transcript": "NM_001365046.1",
"protein_id": "NP_001351975.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 931,
"cds_start": 56,
"cds_end": null,
"cds_length": 2796,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365046.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.56_57delCT",
"hgvs_p": "p.Ser19fs",
"transcript": "NM_001365047.1",
"protein_id": "NP_001351976.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 931,
"cds_start": 56,
"cds_end": null,
"cds_length": 2796,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365047.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.56_57delCT",
"hgvs_p": "p.Ser19fs",
"transcript": "NM_001365048.1",
"protein_id": "NP_001351977.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 931,
"cds_start": 56,
"cds_end": null,
"cds_length": 2796,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365048.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.56_57delCT",
"hgvs_p": "p.Ser19fs",
"transcript": "ENST00000471068.3",
"protein_id": "ENSP00000518935.1",
"transcript_support_level": 4,
"aa_start": 19,
"aa_end": null,
"aa_length": 931,
"cds_start": 56,
"cds_end": null,
"cds_length": 2796,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000471068.3"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.56_57delCT",
"hgvs_p": "p.Ser19fs",
"transcript": "ENST00000494866.2",
"protein_id": "ENSP00000518936.1",
"transcript_support_level": 2,
"aa_start": 19,
"aa_end": null,
"aa_length": 931,
"cds_start": 56,
"cds_end": null,
"cds_length": 2796,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000494866.2"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.56_57delCT",
"hgvs_p": "p.Ser19fs",
"transcript": "ENST00000648231.2",
"protein_id": "ENSP00000497555.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 931,
"cds_start": 56,
"cds_end": null,
"cds_length": 2796,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648231.2"
},
{
"aa_ref": "S",
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"clinvar_submissions_summary": "null",
"phenotype_combined": "Symmetrical dyschromatosis of extremities",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}