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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: 14-105478792-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=105478792&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 105478792,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001270837.2",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRIP2",
"gene_hgnc_id": 2361,
"hgvs_c": "c.258G>A",
"hgvs_p": "p.Gln86Gln",
"transcript": "NM_001312.4",
"protein_id": "NP_001303.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 208,
"cds_start": 258,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000329146.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001312.4"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRIP2",
"gene_hgnc_id": 2361,
"hgvs_c": "c.258G>A",
"hgvs_p": "p.Gln86Gln",
"transcript": "ENST00000329146.9",
"protein_id": "ENSP00000328521.5",
"transcript_support_level": 1,
"aa_start": 86,
"aa_end": null,
"aa_length": 208,
"cds_start": 258,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001312.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000329146.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRIP2",
"gene_hgnc_id": 2361,
"hgvs_c": "n.1053G>A",
"hgvs_p": null,
"transcript": "ENST00000548309.1",
"protein_id": null,
"transcript_support_level": 1,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000548309.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRIP2",
"gene_hgnc_id": 2361,
"hgvs_c": "c.480G>A",
"hgvs_p": "p.Gln160Gln",
"transcript": "NM_001270837.2",
"protein_id": "NP_001257766.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 282,
"cds_start": 480,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270837.2"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRIP2",
"gene_hgnc_id": 2361,
"hgvs_c": "c.480G>A",
"hgvs_p": "p.Gln160Gln",
"transcript": "ENST00000483017.7",
"protein_id": "ENSP00000426119.2",
"transcript_support_level": 2,
"aa_start": 160,
"aa_end": null,
"aa_length": 282,
"cds_start": 480,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000483017.7"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRIP2",
"gene_hgnc_id": 2361,
"hgvs_c": "c.258G>A",
"hgvs_p": "p.Gln86Gln",
"transcript": "ENST00000852172.1",
"protein_id": "ENSP00000522231.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 229,
"cds_start": 258,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852172.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRIP2",
"gene_hgnc_id": 2361,
"hgvs_c": "c.258G>A",
"hgvs_p": "p.Gln86Gln",
"transcript": "ENST00000942978.1",
"protein_id": "ENSP00000613037.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 221,
"cds_start": 258,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942978.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRIP2",
"gene_hgnc_id": 2361,
"hgvs_c": "c.258G>A",
"hgvs_p": "p.Gln86Gln",
"transcript": "ENST00000942977.1",
"protein_id": "ENSP00000613036.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 207,
"cds_start": 258,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942977.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRIP2",
"gene_hgnc_id": 2361,
"hgvs_c": "c.246G>A",
"hgvs_p": "p.Gln82Gln",
"transcript": "ENST00000852175.1",
"protein_id": "ENSP00000522234.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 204,
"cds_start": 246,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852175.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRIP2",
"gene_hgnc_id": 2361,
"hgvs_c": "c.258G>A",
"hgvs_p": "p.Gln86Gln",
"transcript": "ENST00000942976.1",
"protein_id": "ENSP00000613035.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 204,
"cds_start": 258,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942976.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRIP2",
"gene_hgnc_id": 2361,
"hgvs_c": "c.231G>A",
"hgvs_p": "p.Gln77Gln",
"transcript": "ENST00000942980.1",
"protein_id": "ENSP00000613039.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 199,
"cds_start": 231,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942980.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRIP2",
"gene_hgnc_id": 2361,
"hgvs_c": "c.258G>A",
"hgvs_p": "p.Gln86Gln",
"transcript": "ENST00000852173.1",
"protein_id": "ENSP00000522232.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 194,
"cds_start": 258,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852173.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRIP2",
"gene_hgnc_id": 2361,
"hgvs_c": "c.207G>A",
"hgvs_p": "p.Gln69Gln",
"transcript": "ENST00000538259.2",
"protein_id": "ENSP00000437723.2",
"transcript_support_level": 2,
"aa_start": 69,
"aa_end": null,
"aa_length": 191,
"cds_start": 207,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538259.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CRIP2",
"gene_hgnc_id": 2361,
"hgvs_c": "c.197-187G>A",
"hgvs_p": null,
"transcript": "ENST00000942979.1",
"protein_id": "ENSP00000613038.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 161,
"cds_start": null,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942979.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CRIP2",
"gene_hgnc_id": 2361,
"hgvs_c": "c.44-187G>A",
"hgvs_p": null,
"transcript": "ENST00000942981.1",
"protein_id": "ENSP00000613040.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 110,
"cds_start": null,
"cds_end": null,
"cds_length": 333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942981.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CRIP2",
"gene_hgnc_id": 2361,
"hgvs_c": "c.92-333G>A",
"hgvs_p": null,
"transcript": "ENST00000550577.5",
"protein_id": "ENSP00000446875.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 103,
"cds_start": null,
"cds_end": null,
"cds_length": 312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000550577.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CRIP2",
"gene_hgnc_id": 2361,
"hgvs_c": "c.44-333G>A",
"hgvs_p": null,
"transcript": "NM_001270841.2",
"protein_id": "NP_001257770.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 87,
"cds_start": null,
"cds_end": null,
"cds_length": 264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270841.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CRIP2",
"gene_hgnc_id": 2361,
"hgvs_c": "c.138+432G>A",
"hgvs_p": null,
"transcript": "ENST00000852174.1",
"protein_id": "ENSP00000522233.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 87,
"cds_start": null,
"cds_end": null,
"cds_length": 264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852174.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRIP2",
"gene_hgnc_id": 2361,
"hgvs_c": "n.289G>A",
"hgvs_p": null,
"transcript": "ENST00000547643.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000547643.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRIP2",
"gene_hgnc_id": 2361,
"hgvs_c": "n.1099G>A",
"hgvs_p": null,
"transcript": "ENST00000548989.5",
"protein_id": null,
"transcript_support_level": 2,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000548989.5"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRIP2",
"gene_hgnc_id": 2361,
"hgvs_c": "n.201G>A",
"hgvs_p": null,
"transcript": "ENST00000551738.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000551738.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRIP2",
"gene_hgnc_id": 2361,
"hgvs_c": "n.387G>A",
"hgvs_p": null,
"transcript": "ENST00000551836.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000551836.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
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{
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"BP7"
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"verdict": "Likely_benign",
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"clinvar_review_status": "",
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}
],
"message": null
}