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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-71129681-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=71129681&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 71129681,
"ref": "G",
"alt": "T",
"effect": "splice_region_variant,synonymous_variant",
"transcript": "ENST00000374080.8",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "c.3693G>T",
"hgvs_p": "p.Gly1231Gly",
"transcript": "NM_005120.3",
"protein_id": "NP_005111.2",
"transcript_support_level": null,
"aa_start": 1231,
"aa_end": null,
"aa_length": 2177,
"cds_start": 3693,
"cds_end": null,
"cds_length": 6534,
"cdna_start": 3852,
"cdna_end": null,
"cdna_length": 6925,
"mane_select": "ENST00000374080.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "c.3693G>T",
"hgvs_p": "p.Gly1231Gly",
"transcript": "ENST00000374080.8",
"protein_id": "ENSP00000363193.3",
"transcript_support_level": 1,
"aa_start": 1231,
"aa_end": null,
"aa_length": 2177,
"cds_start": 3693,
"cds_end": null,
"cds_length": 6534,
"cdna_start": 3852,
"cdna_end": null,
"cdna_length": 6925,
"mane_select": "NM_005120.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "c.3693G>T",
"hgvs_p": "p.Gly1231Gly",
"transcript": "ENST00000374102.6",
"protein_id": "ENSP00000363215.2",
"transcript_support_level": 1,
"aa_start": 1231,
"aa_end": null,
"aa_length": 2180,
"cds_start": 3693,
"cds_end": null,
"cds_length": 6543,
"cdna_start": 3819,
"cdna_end": null,
"cdna_length": 6901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "c.3693G>T",
"hgvs_p": "p.Gly1231Gly",
"transcript": "ENST00000690145.1",
"protein_id": "ENSP00000508818.1",
"transcript_support_level": null,
"aa_start": 1231,
"aa_end": null,
"aa_length": 2179,
"cds_start": 3693,
"cds_end": null,
"cds_length": 6540,
"cdna_start": 3723,
"cdna_end": null,
"cdna_length": 6739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "c.3693G>T",
"hgvs_p": "p.Gly1231Gly",
"transcript": "ENST00000692304.1",
"protein_id": "ENSP00000508427.1",
"transcript_support_level": null,
"aa_start": 1231,
"aa_end": null,
"aa_length": 2176,
"cds_start": 3693,
"cds_end": null,
"cds_length": 6531,
"cdna_start": 3905,
"cdna_end": null,
"cdna_length": 8628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "c.3693G>T",
"hgvs_p": "p.Gly1231Gly",
"transcript": "ENST00000690242.1",
"protein_id": "ENSP00000510090.1",
"transcript_support_level": null,
"aa_start": 1231,
"aa_end": null,
"aa_length": 2155,
"cds_start": 3693,
"cds_end": null,
"cds_length": 6468,
"cdna_start": 3905,
"cdna_end": null,
"cdna_length": 6912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "c.3693G>T",
"hgvs_p": "p.Gly1231Gly",
"transcript": "ENST00000687382.1",
"protein_id": "ENSP00000510724.1",
"transcript_support_level": null,
"aa_start": 1231,
"aa_end": null,
"aa_length": 2152,
"cds_start": 3693,
"cds_end": null,
"cds_length": 6459,
"cdna_start": 3892,
"cdna_end": null,
"cdna_length": 6764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "c.3573G>T",
"hgvs_p": "p.Gly1191Gly",
"transcript": "ENST00000333646.11",
"protein_id": "ENSP00000333125.8",
"transcript_support_level": 5,
"aa_start": 1191,
"aa_end": null,
"aa_length": 2137,
"cds_start": 3573,
"cds_end": null,
"cds_length": 6414,
"cdna_start": 3732,
"cdna_end": null,
"cdna_length": 6797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "c.3657G>T",
"hgvs_p": "p.Gly1219Gly",
"transcript": "ENST00000693324.1",
"protein_id": "ENSP00000508643.1",
"transcript_support_level": null,
"aa_start": 1219,
"aa_end": null,
"aa_length": 1903,
"cds_start": 3657,
"cds_end": null,
"cds_length": 5712,
"cdna_start": 3709,
"cdna_end": null,
"cdna_length": 5764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "c.3642G>T",
"hgvs_p": "p.Gly1214Gly",
"transcript": "ENST00000691468.1",
"protein_id": "ENSP00000509011.1",
"transcript_support_level": null,
"aa_start": 1214,
"aa_end": null,
"aa_length": 1898,
"cds_start": 3642,
"cds_end": null,
"cds_length": 5697,
"cdna_start": 3671,
"cdna_end": null,
"cdna_length": 5726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "c.1638G>T",
"hgvs_p": "p.Gly546Gly",
"transcript": "ENST00000693391.1",
"protein_id": "ENSP00000509563.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 1494,
"cds_start": 1638,
"cds_end": null,
"cds_length": 4485,
"cdna_start": 1638,
"cdna_end": null,
"cdna_length": 4699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "c.216G>T",
"hgvs_p": "p.Gly72Gly",
"transcript": "ENST00000690690.1",
"protein_id": "ENSP00000510183.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 355,
"cds_start": 216,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 218,
"cdna_end": null,
"cdna_length": 1070,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "c.3693G>T",
"hgvs_p": "p.Gly1231Gly",
"transcript": "XM_047442699.1",
"protein_id": "XP_047298655.1",
"transcript_support_level": null,
"aa_start": 1231,
"aa_end": null,
"aa_length": 2130,
"cds_start": 3693,
"cds_end": null,
"cds_length": 6393,
"cdna_start": 3852,
"cdna_end": null,
"cdna_length": 7312,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "c.3693G>T",
"hgvs_p": "p.Gly1231Gly",
"transcript": "XM_047442700.1",
"protein_id": "XP_047298656.1",
"transcript_support_level": null,
"aa_start": 1231,
"aa_end": null,
"aa_length": 2128,
"cds_start": 3693,
"cds_end": null,
"cds_length": 6387,
"cdna_start": 3852,
"cdna_end": null,
"cdna_length": 7306,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "c.3693G>T",
"hgvs_p": "p.Gly1231Gly",
"transcript": "XM_047442701.1",
"protein_id": "XP_047298657.1",
"transcript_support_level": null,
"aa_start": 1231,
"aa_end": null,
"aa_length": 2127,
"cds_start": 3693,
"cds_end": null,
"cds_length": 6384,
"cdna_start": 3852,
"cdna_end": null,
"cdna_length": 7303,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "c.3693G>T",
"hgvs_p": "p.Gly1231Gly",
"transcript": "XM_047442702.1",
"protein_id": "XP_047298658.1",
"transcript_support_level": null,
"aa_start": 1231,
"aa_end": null,
"aa_length": 2125,
"cds_start": 3693,
"cds_end": null,
"cds_length": 6378,
"cdna_start": 3852,
"cdna_end": null,
"cdna_length": 7297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "c.3693G>T",
"hgvs_p": "p.Gly1231Gly",
"transcript": "XM_047442703.1",
"protein_id": "XP_047298659.1",
"transcript_support_level": null,
"aa_start": 1231,
"aa_end": null,
"aa_length": 2103,
"cds_start": 3693,
"cds_end": null,
"cds_length": 6312,
"cdna_start": 3852,
"cdna_end": null,
"cdna_length": 7231,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "c.3693G>T",
"hgvs_p": "p.Gly1231Gly",
"transcript": "XM_047442704.1",
"protein_id": "XP_047298660.1",
"transcript_support_level": null,
"aa_start": 1231,
"aa_end": null,
"aa_length": 2100,
"cds_start": 3693,
"cds_end": null,
"cds_length": 6303,
"cdna_start": 3852,
"cdna_end": null,
"cdna_length": 7222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "n.149G>T",
"hgvs_p": null,
"transcript": "ENST00000460771.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "n.*327G>T",
"hgvs_p": null,
"transcript": "ENST00000489199.2",
"protein_id": "ENSP00000509553.1",
"transcript_support_level": 2,
"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": 1201,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "n.*3589G>T",
"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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "n.408G>T",
"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,
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}
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}