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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: X-71141265-GCAGCAA-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=71141265&ref=GCAGCAA&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 71141265,
"ref": "GCAGCAA",
"alt": "G",
"effect": "disruptive_inframe_deletion",
"transcript": "ENST00000374080.8",
"consequences": [
{
"aa_ref": "QQQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "c.6315_6320delACAGCA",
"hgvs_p": "p.Gln2106_Gln2107del",
"transcript": "NM_005120.3",
"protein_id": "NP_005111.2",
"transcript_support_level": null,
"aa_start": 2105,
"aa_end": null,
"aa_length": 2177,
"cds_start": 6315,
"cds_end": null,
"cds_length": 6534,
"cdna_start": 6474,
"cdna_end": null,
"cdna_length": 6925,
"mane_select": "ENST00000374080.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQ",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "c.6315_6320delACAGCA",
"hgvs_p": "p.Gln2106_Gln2107del",
"transcript": "ENST00000374080.8",
"protein_id": "ENSP00000363193.3",
"transcript_support_level": 1,
"aa_start": 2105,
"aa_end": null,
"aa_length": 2177,
"cds_start": 6315,
"cds_end": null,
"cds_length": 6534,
"cdna_start": 6474,
"cdna_end": null,
"cdna_length": 6925,
"mane_select": "NM_005120.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "c.6324_6329delACAGCA",
"hgvs_p": "p.Gln2109_Gln2110del",
"transcript": "ENST00000374102.6",
"protein_id": "ENSP00000363215.2",
"transcript_support_level": 1,
"aa_start": 2108,
"aa_end": null,
"aa_length": 2180,
"cds_start": 6324,
"cds_end": null,
"cds_length": 6543,
"cdna_start": 6450,
"cdna_end": null,
"cdna_length": 6901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "c.6321_6326delACAGCA",
"hgvs_p": "p.Gln2108_Gln2109del",
"transcript": "ENST00000690145.1",
"protein_id": "ENSP00000508818.1",
"transcript_support_level": null,
"aa_start": 2107,
"aa_end": null,
"aa_length": 2179,
"cds_start": 6321,
"cds_end": null,
"cds_length": 6540,
"cdna_start": 6351,
"cdna_end": null,
"cdna_length": 6739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "c.6312_6317delACAGCA",
"hgvs_p": "p.Gln2105_Gln2106del",
"transcript": "ENST00000692304.1",
"protein_id": "ENSP00000508427.1",
"transcript_support_level": null,
"aa_start": 2104,
"aa_end": null,
"aa_length": 2176,
"cds_start": 6312,
"cds_end": null,
"cds_length": 6531,
"cdna_start": 6524,
"cdna_end": null,
"cdna_length": 8628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "c.6249_6254delACAGCA",
"hgvs_p": "p.Gln2084_Gln2085del",
"transcript": "ENST00000690242.1",
"protein_id": "ENSP00000510090.1",
"transcript_support_level": null,
"aa_start": 2083,
"aa_end": null,
"aa_length": 2155,
"cds_start": 6249,
"cds_end": null,
"cds_length": 6468,
"cdna_start": 6461,
"cdna_end": null,
"cdna_length": 6912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "c.6240_6245delACAGCA",
"hgvs_p": "p.Gln2081_Gln2082del",
"transcript": "ENST00000687382.1",
"protein_id": "ENSP00000510724.1",
"transcript_support_level": null,
"aa_start": 2080,
"aa_end": null,
"aa_length": 2152,
"cds_start": 6240,
"cds_end": null,
"cds_length": 6459,
"cdna_start": 6439,
"cdna_end": null,
"cdna_length": 6764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "c.6195_6200delACAGCA",
"hgvs_p": "p.Gln2066_Gln2067del",
"transcript": "ENST00000333646.11",
"protein_id": "ENSP00000333125.8",
"transcript_support_level": 5,
"aa_start": 2065,
"aa_end": null,
"aa_length": 2137,
"cds_start": 6195,
"cds_end": null,
"cds_length": 6414,
"cdna_start": 6354,
"cdna_end": null,
"cdna_length": 6797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "c.4266_4271delACAGCA",
"hgvs_p": "p.Gln1423_Gln1424del",
"transcript": "ENST00000693391.1",
"protein_id": "ENSP00000509563.1",
"transcript_support_level": null,
"aa_start": 1422,
"aa_end": null,
"aa_length": 1494,
"cds_start": 4266,
"cds_end": null,
"cds_length": 4485,
"cdna_start": 4266,
"cdna_end": null,
"cdna_length": 4699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "c.1287_1292delACAGCA",
"hgvs_p": "p.Gln430_Gln431del",
"transcript": "ENST00000444034.2",
"protein_id": "ENSP00000404373.2",
"transcript_support_level": 5,
"aa_start": 429,
"aa_end": null,
"aa_length": 501,
"cds_start": 1287,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 1287,
"cdna_end": null,
"cdna_length": 1675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "c.357_362delACAGCA",
"hgvs_p": "p.Gln120_Gln121del",
"transcript": "ENST00000688231.1",
"protein_id": "ENSP00000508591.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 246,
"cds_start": 357,
"cds_end": null,
"cds_length": 741,
"cdna_start": 359,
"cdna_end": null,
"cdna_length": 854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "n.3013_3018delACAGCA",
"hgvs_p": null,
"transcript": "ENST00000685182.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3446,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "n.2701_2706delACAGCA",
"hgvs_p": null,
"transcript": "ENST00000686169.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3148,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "n.*6220_*6225delACAGCA",
"hgvs_p": null,
"transcript": "ENST00000686548.1",
"protein_id": "ENSP00000509582.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6852,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "n.3030_3035delACAGCA",
"hgvs_p": null,
"transcript": "ENST00000687161.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "n.3074_3079delACAGCA",
"hgvs_p": null,
"transcript": "ENST00000687701.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3499,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "n.988_993delACAGCA",
"hgvs_p": null,
"transcript": "ENST00000687973.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "n.4310_4315delACAGCA",
"hgvs_p": null,
"transcript": "ENST00000688079.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4676,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "n.1875_1880delACAGCA",
"hgvs_p": null,
"transcript": "ENST00000688508.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2263,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "n.*166_*171delACAGCA",
"hgvs_p": null,
"transcript": "ENST00000688774.1",
"protein_id": "ENSP00000508823.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1186,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "n.634_639delACAGCA",
"hgvs_p": null,
"transcript": "ENST00000689489.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1094,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "n.4934_4939delACAGCA",
"hgvs_p": null,
"transcript": "ENST00000689768.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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}