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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: 17-7583905-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=7583905&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 7583905,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000250124.11",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDU1",
"gene_hgnc_id": 7207,
"hgvs_c": "c.43C>T",
"hgvs_p": "p.Pro15Ser",
"transcript": "NM_004870.4",
"protein_id": "NP_004861.2",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 247,
"cds_start": 43,
"cds_end": null,
"cds_length": 744,
"cdna_start": 54,
"cdna_end": null,
"cdna_length": 1416,
"mane_select": "ENST00000250124.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDU1",
"gene_hgnc_id": 7207,
"hgvs_c": "c.43C>T",
"hgvs_p": "p.Pro15Ser",
"transcript": "ENST00000250124.11",
"protein_id": "ENSP00000250124.6",
"transcript_support_level": 1,
"aa_start": 15,
"aa_end": null,
"aa_length": 247,
"cds_start": 43,
"cds_end": null,
"cds_length": 744,
"cdna_start": 54,
"cdna_end": null,
"cdna_length": 1416,
"mane_select": "NM_004870.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDU1",
"gene_hgnc_id": 7207,
"hgvs_c": "c.43C>T",
"hgvs_p": "p.Pro15Ser",
"transcript": "ENST00000579445.5",
"protein_id": "ENSP00000464158.1",
"transcript_support_level": 3,
"aa_start": 15,
"aa_end": null,
"aa_length": 192,
"cds_start": 43,
"cds_end": null,
"cds_length": 581,
"cdna_start": 44,
"cdna_end": null,
"cdna_length": 582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDU1",
"gene_hgnc_id": 7207,
"hgvs_c": "c.43C>T",
"hgvs_p": "p.Pro15Ser",
"transcript": "NM_001330073.1",
"protein_id": "NP_001317002.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 192,
"cds_start": 43,
"cds_end": null,
"cds_length": 579,
"cdna_start": 259,
"cdna_end": null,
"cdna_length": 1563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDU1",
"gene_hgnc_id": 7207,
"hgvs_c": "c.43C>T",
"hgvs_p": "p.Pro15Ser",
"transcript": "ENST00000396501.8",
"protein_id": "ENSP00000379758.4",
"transcript_support_level": 2,
"aa_start": 15,
"aa_end": null,
"aa_length": 192,
"cds_start": 43,
"cds_end": null,
"cds_length": 579,
"cdna_start": 78,
"cdna_end": null,
"cdna_length": 1125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDU1",
"gene_hgnc_id": 7207,
"hgvs_c": "c.43C>T",
"hgvs_p": "p.Pro15Ser",
"transcript": "ENST00000423172.6",
"protein_id": "ENSP00000414071.2",
"transcript_support_level": 2,
"aa_start": 15,
"aa_end": null,
"aa_length": 186,
"cds_start": 43,
"cds_end": null,
"cds_length": 561,
"cdna_start": 53,
"cdna_end": null,
"cdna_length": 888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDU1",
"gene_hgnc_id": 7207,
"hgvs_c": "c.43C>T",
"hgvs_p": "p.Pro15Ser",
"transcript": "ENST00000584378.5",
"protein_id": "ENSP00000462839.1",
"transcript_support_level": 4,
"aa_start": 15,
"aa_end": null,
"aa_length": 153,
"cds_start": 43,
"cds_end": null,
"cds_length": 464,
"cdna_start": 54,
"cdna_end": null,
"cdna_length": 475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDU1",
"gene_hgnc_id": 7207,
"hgvs_c": "c.13C>T",
"hgvs_p": "p.Pro5Ser",
"transcript": "ENST00000581380.1",
"protein_id": "ENSP00000463966.1",
"transcript_support_level": 3,
"aa_start": 5,
"aa_end": null,
"aa_length": 151,
"cds_start": 13,
"cds_end": null,
"cds_length": 456,
"cdna_start": 13,
"cdna_end": null,
"cdna_length": 456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDU1",
"gene_hgnc_id": 7207,
"hgvs_c": "c.31C>T",
"hgvs_p": "p.Pro11Ser",
"transcript": "ENST00000585217.5",
"protein_id": "ENSP00000463037.1",
"transcript_support_level": 3,
"aa_start": 11,
"aa_end": null,
"aa_length": 116,
"cds_start": 31,
"cds_end": null,
"cds_length": 351,
"cdna_start": 31,
"cdna_end": null,
"cdna_length": 438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDU1",
"gene_hgnc_id": 7207,
"hgvs_c": "c.43C>T",
"hgvs_p": "p.Pro15Ser",
"transcript": "ENST00000582151.1",
"protein_id": "ENSP00000462500.1",
"transcript_support_level": 6,
"aa_start": 15,
"aa_end": null,
"aa_length": 52,
"cds_start": 43,
"cds_end": null,
"cds_length": 159,
"cdna_start": 377,
"cdna_end": null,
"cdna_length": 728,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDU1",
"gene_hgnc_id": 7207,
"hgvs_c": "c.43C>T",
"hgvs_p": "p.Pro15Ser",
"transcript": "XM_006721597.3",
"protein_id": "XP_006721660.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 260,
"cds_start": 43,
"cds_end": null,
"cds_length": 783,
"cdna_start": 259,
"cdna_end": null,
"cdna_length": 1502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDU1",
"gene_hgnc_id": 7207,
"hgvs_c": "c.43C>T",
"hgvs_p": "p.Pro15Ser",
"transcript": "XM_006721598.4",
"protein_id": "XP_006721661.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 259,
"cds_start": 43,
"cds_end": null,
"cds_length": 780,
"cdna_start": 259,
"cdna_end": null,
"cdna_length": 1764,
"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": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDU1",
"gene_hgnc_id": 7207,
"hgvs_c": "n.43C>T",
"hgvs_p": null,
"transcript": "ENST00000359822.10",
"protein_id": "ENSP00000352876.6",
"transcript_support_level": 3,
"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": 840,
"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": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDU1",
"gene_hgnc_id": 7207,
"hgvs_c": "n.31C>T",
"hgvs_p": null,
"transcript": "ENST00000570458.5",
"protein_id": "ENSP00000459409.1",
"transcript_support_level": 3,
"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": 591,
"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": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDU1",
"gene_hgnc_id": 7207,
"hgvs_c": "n.58C>T",
"hgvs_p": null,
"transcript": "ENST00000571391.5",
"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": 677,
"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": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDU1",
"gene_hgnc_id": 7207,
"hgvs_c": "n.43C>T",
"hgvs_p": null,
"transcript": "ENST00000571822.5",
"protein_id": "ENSP00000458741.1",
"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": 1020,
"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": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDU1",
"gene_hgnc_id": 7207,
"hgvs_c": "n.43C>T",
"hgvs_p": null,
"transcript": "ENST00000572719.5",
"protein_id": "ENSP00000459498.1",
"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": 917,
"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": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDU1",
"gene_hgnc_id": 7207,
"hgvs_c": "n.54C>T",
"hgvs_p": null,
"transcript": "ENST00000572836.5",
"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": 1523,
"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": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDU1",
"gene_hgnc_id": 7207,
"hgvs_c": "n.43C>T",
"hgvs_p": null,
"transcript": "ENST00000572936.5",
"protein_id": "ENSP00000459306.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 1102,
"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": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDU1",
"gene_hgnc_id": 7207,
"hgvs_c": "n.10C>T",
"hgvs_p": null,
"transcript": "ENST00000574558.1",
"protein_id": "ENSP00000461499.1",
"transcript_support_level": 3,
"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": 900,
"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": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDU1",
"gene_hgnc_id": 7207,
"hgvs_c": "n.36C>T",
"hgvs_p": null,
"transcript": "ENST00000575256.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 392,
"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": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDU1",
"gene_hgnc_id": 7207,
"hgvs_c": "n.43C>T",
"hgvs_p": null,
"transcript": "ENST00000576066.5",
"protein_id": "ENSP00000461183.1",
"transcript_support_level": 3,
"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": 491,
"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": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDU1",
"gene_hgnc_id": 7207,
"hgvs_c": "n.19C>T",
"hgvs_p": null,
"transcript": "ENST00000576272.5",
"protein_id": "ENSP00000460864.1",
"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,
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}