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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: 7-34055301-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=34055301&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 34055301,
"ref": "C",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000649409.2",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPER",
"gene_hgnc_id": 24154,
"hgvs_c": "c.925C>A",
"hgvs_p": "p.Gln309Lys",
"transcript": "NM_001365308.1",
"protein_id": "NP_001352237.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 685,
"cds_start": 925,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 1000,
"cdna_end": null,
"cdna_length": 5287,
"mane_select": "ENST00000649409.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPER",
"gene_hgnc_id": 24154,
"hgvs_c": "c.925C>A",
"hgvs_p": "p.Gln309Lys",
"transcript": "ENST00000649409.2",
"protein_id": "ENSP00000497748.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 685,
"cds_start": 925,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 1000,
"cdna_end": null,
"cdna_length": 5287,
"mane_select": "NM_001365308.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPER",
"gene_hgnc_id": 24154,
"hgvs_c": "c.925C>A",
"hgvs_p": "p.Gln309Lys",
"transcript": "ENST00000297161.6",
"protein_id": "ENSP00000297161.2",
"transcript_support_level": 1,
"aa_start": 309,
"aa_end": null,
"aa_length": 685,
"cds_start": 925,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 1299,
"cdna_end": null,
"cdna_length": 5031,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPER",
"gene_hgnc_id": 24154,
"hgvs_c": "c.925C>A",
"hgvs_p": "p.Gln309Lys",
"transcript": "NM_133468.5",
"protein_id": "NP_597725.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 685,
"cds_start": 925,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 1295,
"cdna_end": null,
"cdna_length": 5582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPER",
"gene_hgnc_id": 24154,
"hgvs_c": "c.925C>A",
"hgvs_p": "p.Gln309Lys",
"transcript": "ENST00000650544.1",
"protein_id": "ENSP00000497982.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 650,
"cds_start": 925,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 1000,
"cdna_end": null,
"cdna_length": 3213,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPER",
"gene_hgnc_id": 24154,
"hgvs_c": "c.925C>A",
"hgvs_p": "p.Gln309Lys",
"transcript": "ENST00000648445.1",
"protein_id": "ENSP00000498008.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 627,
"cds_start": 925,
"cds_end": null,
"cds_length": 1884,
"cdna_start": 955,
"cdna_end": null,
"cdna_length": 3106,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPER",
"gene_hgnc_id": 24154,
"hgvs_c": "c.925C>A",
"hgvs_p": "p.Gln309Lys",
"transcript": "ENST00000648392.1",
"protein_id": "ENSP00000497488.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 592,
"cds_start": 925,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 1000,
"cdna_end": null,
"cdna_length": 3106,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPER",
"gene_hgnc_id": 24154,
"hgvs_c": "c.925C>A",
"hgvs_p": "p.Gln309Lys",
"transcript": "NM_001410872.1",
"protein_id": "NP_001397801.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 575,
"cds_start": 925,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1000,
"cdna_end": null,
"cdna_length": 4957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPER",
"gene_hgnc_id": 24154,
"hgvs_c": "c.925C>A",
"hgvs_p": "p.Gln309Lys",
"transcript": "ENST00000648848.1",
"protein_id": "ENSP00000497963.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 575,
"cds_start": 925,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 994,
"cdna_end": null,
"cdna_length": 2930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPER",
"gene_hgnc_id": 24154,
"hgvs_c": "c.517C>A",
"hgvs_p": "p.Gln173Lys",
"transcript": "ENST00000648982.1",
"protein_id": "ENSP00000498182.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 549,
"cds_start": 517,
"cds_end": null,
"cds_length": 1650,
"cdna_start": 518,
"cdna_end": null,
"cdna_length": 4734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPER",
"gene_hgnc_id": 24154,
"hgvs_c": "c.721C>A",
"hgvs_p": "p.Gln241Lys",
"transcript": "ENST00000648856.1",
"protein_id": "ENSP00000496854.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 517,
"cds_start": 721,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 929,
"cdna_end": null,
"cdna_length": 3133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPER",
"gene_hgnc_id": 24154,
"hgvs_c": "c.271C>A",
"hgvs_p": "p.Gln91Lys",
"transcript": "XM_047419939.1",
"protein_id": "XP_047275895.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 467,
"cds_start": 271,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 421,
"cdna_end": null,
"cdna_length": 4708,
"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": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPER",
"gene_hgnc_id": 24154,
"hgvs_c": "n.*327C>A",
"hgvs_p": null,
"transcript": "ENST00000647656.1",
"protein_id": "ENSP00000497346.1",
"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": 3005,
"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": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPER",
"gene_hgnc_id": 24154,
"hgvs_c": "n.425C>A",
"hgvs_p": null,
"transcript": "ENST00000647703.1",
"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": 2666,
"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": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPER",
"gene_hgnc_id": 24154,
"hgvs_c": "n.825C>A",
"hgvs_p": null,
"transcript": "ENST00000648229.1",
"protein_id": "ENSP00000498201.1",
"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": 3100,
"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": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPER",
"gene_hgnc_id": 24154,
"hgvs_c": "n.378C>A",
"hgvs_p": null,
"transcript": "ENST00000648320.1",
"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": 2576,
"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": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPER",
"gene_hgnc_id": 24154,
"hgvs_c": "n.*327C>A",
"hgvs_p": null,
"transcript": "ENST00000648618.1",
"protein_id": "ENSP00000496953.1",
"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": 2675,
"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": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPER",
"gene_hgnc_id": 24154,
"hgvs_c": "n.825C>A",
"hgvs_p": null,
"transcript": "ENST00000649002.1",
"protein_id": "ENSP00000496926.1",
"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": 3079,
"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": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPER",
"gene_hgnc_id": 24154,
"hgvs_c": "n.756C>A",
"hgvs_p": null,
"transcript": "ENST00000649232.1",
"protein_id": "ENSP00000497721.1",
"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": 2026,
"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": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPER",
"gene_hgnc_id": 24154,
"hgvs_c": "n.721C>A",
"hgvs_p": null,
"transcript": "ENST00000649771.1",
"protein_id": "ENSP00000497314.1",
"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": 3114,
"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": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPER",
"gene_hgnc_id": 24154,
"hgvs_c": "n.*280C>A",
"hgvs_p": null,
"transcript": "ENST00000649985.1",
"protein_id": "ENSP00000497578.1",
"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": 3239,
"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": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPER",
"gene_hgnc_id": 24154,
"hgvs_c": "n.*327C>A",
"hgvs_p": null,
"transcript": "ENST00000650202.1",
"protein_id": "ENSP00000497972.1",
"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": 3098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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{
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"clinvar_review_status": "",
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}
],
"message": null
}