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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: 6-90518552-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=90518552&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 90518552,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000369329.8",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7",
"gene_hgnc_id": 6859,
"hgvs_c": "c.1535C>T",
"hgvs_p": "p.Pro512Leu",
"transcript": "NM_145331.3",
"protein_id": "NP_663304.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 606,
"cds_start": 1535,
"cds_end": null,
"cds_length": 1821,
"cdna_start": 1724,
"cdna_end": null,
"cdna_length": 4932,
"mane_select": "ENST00000369329.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7",
"gene_hgnc_id": 6859,
"hgvs_c": "c.1535C>T",
"hgvs_p": "p.Pro512Leu",
"transcript": "ENST00000369329.8",
"protein_id": "ENSP00000358335.3",
"transcript_support_level": 1,
"aa_start": 512,
"aa_end": null,
"aa_length": 606,
"cds_start": 1535,
"cds_end": null,
"cds_length": 1821,
"cdna_start": 1724,
"cdna_end": null,
"cdna_length": 4932,
"mane_select": "NM_145331.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7",
"gene_hgnc_id": 6859,
"hgvs_c": "c.1454C>T",
"hgvs_p": "p.Pro485Leu",
"transcript": "ENST00000369332.7",
"protein_id": "ENSP00000358338.3",
"transcript_support_level": 1,
"aa_start": 485,
"aa_end": null,
"aa_length": 579,
"cds_start": 1454,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1616,
"cdna_end": null,
"cdna_length": 4830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "MAP3K7",
"gene_hgnc_id": 6859,
"hgvs_c": "c.1524+706C>T",
"hgvs_p": null,
"transcript": "ENST00000369325.7",
"protein_id": "ENSP00000358331.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 518,
"cds_start": -4,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "MAP3K7",
"gene_hgnc_id": 6859,
"hgvs_c": "c.1443+706C>T",
"hgvs_p": null,
"transcript": "ENST00000369327.7",
"protein_id": "ENSP00000358333.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 491,
"cds_start": -4,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7",
"gene_hgnc_id": 6859,
"hgvs_c": "c.1529C>T",
"hgvs_p": "p.Pro510Leu",
"transcript": "ENST00000700592.1",
"protein_id": "ENSP00000515083.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 604,
"cds_start": 1529,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 1718,
"cdna_end": null,
"cdna_length": 2768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7",
"gene_hgnc_id": 6859,
"hgvs_c": "c.1454C>T",
"hgvs_p": "p.Pro485Leu",
"transcript": "NM_003188.4",
"protein_id": "NP_003179.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 579,
"cds_start": 1454,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1643,
"cdna_end": null,
"cdna_length": 4851,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7",
"gene_hgnc_id": 6859,
"hgvs_c": "c.1388C>T",
"hgvs_p": "p.Pro463Leu",
"transcript": "ENST00000700591.1",
"protein_id": "ENSP00000515082.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 557,
"cds_start": 1388,
"cds_end": null,
"cds_length": 1674,
"cdna_start": 1574,
"cdna_end": null,
"cdna_length": 2624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7",
"gene_hgnc_id": 6859,
"hgvs_c": "c.1145C>T",
"hgvs_p": "p.Pro382Leu",
"transcript": "ENST00000700593.1",
"protein_id": "ENSP00000515084.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 476,
"cds_start": 1145,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1431,
"cdna_end": null,
"cdna_length": 2476,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7",
"gene_hgnc_id": 6859,
"hgvs_c": "c.299C>T",
"hgvs_p": "p.Pro100Leu",
"transcript": "ENST00000703101.1",
"protein_id": "ENSP00000515169.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 194,
"cds_start": 299,
"cds_end": null,
"cds_length": 585,
"cdna_start": 488,
"cdna_end": null,
"cdna_length": 1437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7",
"gene_hgnc_id": 6859,
"hgvs_c": "c.1145C>T",
"hgvs_p": "p.Pro382Leu",
"transcript": "XM_006715553.4",
"protein_id": "XP_006715616.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 476,
"cds_start": 1145,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1289,
"cdna_end": null,
"cdna_length": 4497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7",
"gene_hgnc_id": 6859,
"hgvs_c": "n.2224C>T",
"hgvs_p": null,
"transcript": "ENST00000369320.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 3328,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7",
"gene_hgnc_id": 6859,
"hgvs_c": "n.1061C>T",
"hgvs_p": null,
"transcript": "ENST00000479630.1",
"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": 2214,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7",
"gene_hgnc_id": 6859,
"hgvs_c": "n.1454C>T",
"hgvs_p": null,
"transcript": "ENST00000700580.1",
"protein_id": "ENSP00000515074.1",
"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": 2795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7",
"gene_hgnc_id": 6859,
"hgvs_c": "n.*676C>T",
"hgvs_p": null,
"transcript": "ENST00000700581.1",
"protein_id": "ENSP00000515075.1",
"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": 4114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7",
"gene_hgnc_id": 6859,
"hgvs_c": "n.*1390C>T",
"hgvs_p": null,
"transcript": "ENST00000700582.1",
"protein_id": "ENSP00000515076.1",
"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": 3411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7",
"gene_hgnc_id": 6859,
"hgvs_c": "n.*1060C>T",
"hgvs_p": null,
"transcript": "ENST00000700583.1",
"protein_id": "ENSP00000515077.1",
"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": 2801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7",
"gene_hgnc_id": 6859,
"hgvs_c": "n.*1415C>T",
"hgvs_p": null,
"transcript": "ENST00000700584.1",
"protein_id": "ENSP00000515078.1",
"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": 2901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7",
"gene_hgnc_id": 6859,
"hgvs_c": "n.*222C>T",
"hgvs_p": null,
"transcript": "ENST00000700585.1",
"protein_id": "ENSP00000515079.1",
"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": 1614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7",
"gene_hgnc_id": 6859,
"hgvs_c": "n.1205C>T",
"hgvs_p": null,
"transcript": "ENST00000700586.1",
"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": 2250,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7",
"gene_hgnc_id": 6859,
"hgvs_c": "n.*1474C>T",
"hgvs_p": null,
"transcript": "ENST00000700587.1",
"protein_id": "ENSP00000515080.1",
"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": 2771,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7",
"gene_hgnc_id": 6859,
"hgvs_c": "n.1520C>T",
"hgvs_p": null,
"transcript": "ENST00000700588.1",
"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": 2479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7",
"gene_hgnc_id": 6859,
"hgvs_c": "n.*858C>T",
"hgvs_p": null,
"transcript": "ENST00000700589.1",
"protein_id": "ENSP00000515081.1",
"transcript_support_level": null,
"aa_start": null,
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"phenotype_combined": "Frontometaphyseal dysplasia 2|not provided",
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}
],
"message": null
}