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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-103500558-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=103500558&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 103500558,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_080879.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB40A",
"gene_hgnc_id": 18283,
"hgvs_c": "c.199C>A",
"hgvs_p": "p.Leu67Ile",
"transcript": "NM_080879.3",
"protein_id": "NP_543155.2",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 277,
"cds_start": 199,
"cds_end": null,
"cds_length": 834,
"cdna_start": 541,
"cdna_end": null,
"cdna_length": 1969,
"mane_select": "ENST00000304236.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_080879.3"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB40A",
"gene_hgnc_id": 18283,
"hgvs_c": "c.199C>A",
"hgvs_p": "p.Leu67Ile",
"transcript": "ENST00000304236.2",
"protein_id": "ENSP00000305648.1",
"transcript_support_level": 2,
"aa_start": 67,
"aa_end": null,
"aa_length": 277,
"cds_start": 199,
"cds_end": null,
"cds_length": 834,
"cdna_start": 541,
"cdna_end": null,
"cdna_length": 1969,
"mane_select": "NM_080879.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000304236.2"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB40A",
"gene_hgnc_id": 18283,
"hgvs_c": "c.199C>A",
"hgvs_p": "p.Leu67Ile",
"transcript": "ENST00000372633.1",
"protein_id": "ENSP00000361716.1",
"transcript_support_level": 6,
"aa_start": 67,
"aa_end": null,
"aa_length": 277,
"cds_start": 199,
"cds_end": null,
"cds_length": 834,
"cdna_start": 2318,
"cdna_end": null,
"cdna_length": 3126,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372633.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB40A",
"gene_hgnc_id": 18283,
"hgvs_c": "c.199C>A",
"hgvs_p": "p.Leu67Ile",
"transcript": "ENST00000905301.1",
"protein_id": "ENSP00000575360.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 277,
"cds_start": 199,
"cds_end": null,
"cds_length": 834,
"cdna_start": 676,
"cdna_end": null,
"cdna_length": 1483,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905301.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB40A",
"gene_hgnc_id": 18283,
"hgvs_c": "c.199C>A",
"hgvs_p": "p.Leu67Ile",
"transcript": "ENST00000905302.1",
"protein_id": "ENSP00000575361.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 277,
"cds_start": 199,
"cds_end": null,
"cds_length": 834,
"cdna_start": 437,
"cdna_end": null,
"cdna_length": 4454,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905302.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB40A",
"gene_hgnc_id": 18283,
"hgvs_c": "c.199C>A",
"hgvs_p": "p.Leu67Ile",
"transcript": "ENST00000942559.1",
"protein_id": "ENSP00000612618.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 277,
"cds_start": 199,
"cds_end": null,
"cds_length": 834,
"cdna_start": 432,
"cdna_end": null,
"cdna_length": 2195,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942559.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB40A",
"gene_hgnc_id": 18283,
"hgvs_c": "c.199C>A",
"hgvs_p": "p.Leu67Ile",
"transcript": "ENST00000942560.1",
"protein_id": "ENSP00000612619.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 277,
"cds_start": 199,
"cds_end": null,
"cds_length": 834,
"cdna_start": 433,
"cdna_end": null,
"cdna_length": 1241,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942560.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB40A",
"gene_hgnc_id": 18283,
"hgvs_c": "c.199C>A",
"hgvs_p": "p.Leu67Ile",
"transcript": "XM_047441843.1",
"protein_id": "XP_047297799.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 277,
"cds_start": 199,
"cds_end": null,
"cds_length": 834,
"cdna_start": 396,
"cdna_end": null,
"cdna_length": 7688,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441843.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB40A",
"gene_hgnc_id": 18283,
"hgvs_c": "c.199C>A",
"hgvs_p": "p.Leu67Ile",
"transcript": "XM_047441844.1",
"protein_id": "XP_047297800.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 277,
"cds_start": 199,
"cds_end": null,
"cds_length": 834,
"cdna_start": 393,
"cdna_end": null,
"cdna_length": 1821,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441844.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LL0XNC01-250H12.3",
"gene_hgnc_id": null,
"hgvs_c": "n.2051G>T",
"hgvs_p": null,
"transcript": "ENST00000445990.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2803,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000445990.2"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LL0XNC01-250H12.3",
"gene_hgnc_id": null,
"hgvs_c": "n.2086G>T",
"hgvs_p": null,
"transcript": "ENST00000801275.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2428,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000801275.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LL0XNC01-250H12.3",
"gene_hgnc_id": null,
"hgvs_c": "n.2047G>T",
"hgvs_p": null,
"transcript": "ENST00000801276.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2390,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000801276.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LL0XNC01-250H12.3",
"gene_hgnc_id": null,
"hgvs_c": "n.1990G>T",
"hgvs_p": null,
"transcript": "ENST00000801277.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2332,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000801277.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LL0XNC01-250H12.3",
"gene_hgnc_id": null,
"hgvs_c": "n.1506G>T",
"hgvs_p": null,
"transcript": "ENST00000801278.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1848,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000801278.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LL0XNC01-250H12.3",
"gene_hgnc_id": null,
"hgvs_c": "n.2228G>T",
"hgvs_p": null,
"transcript": "NR_188433.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2572,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_188433.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LL0XNC01-250H12.3",
"gene_hgnc_id": null,
"hgvs_c": "n.2155G>T",
"hgvs_p": null,
"transcript": "NR_188435.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2499,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_188435.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LL0XNC01-250H12.3",
"gene_hgnc_id": null,
"hgvs_c": "n.1952G>T",
"hgvs_p": null,
"transcript": "NR_188436.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2296,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_188436.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LL0XNC01-250H12.3",
"gene_hgnc_id": null,
"hgvs_c": "n.2031G>T",
"hgvs_p": null,
"transcript": "NR_188437.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2375,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_188437.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LL0XNC01-250H12.3",
"gene_hgnc_id": null,
"hgvs_c": "n.1879G>T",
"hgvs_p": null,
"transcript": "NR_188438.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2223,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_188438.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "LL0XNC01-250H12.3",
"gene_hgnc_id": null,
"hgvs_c": "n.843-17090G>T",
"hgvs_p": null,
"transcript": "ENST00000628546.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1914,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000628546.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "LL0XNC01-250H12.3",
"gene_hgnc_id": null,
"hgvs_c": "n.820+14099G>T",
"hgvs_p": null,
"transcript": "ENST00000630831.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1116,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000630831.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LL0XNC01-250H12.3",
"gene_hgnc_id": null,
"hgvs_c": "n.999+2945G>T",
"hgvs_p": null,
"transcript": "ENST00000658164.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1271,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000658164.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
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"effects": [
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{
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}