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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: 19-48242052-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=48242052&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 48242052,
"ref": "G",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000651546.1",
"consequences": [
{
"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": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "c.-43-989C>G",
"hgvs_p": null,
"transcript": "NM_001184900.3",
"protein_id": "NP_001171829.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 537,
"cds_start": -4,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5610,
"mane_select": "ENST00000651546.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "c.-43-989C>G",
"hgvs_p": null,
"transcript": "ENST00000651546.1",
"protein_id": "ENSP00000499211.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 537,
"cds_start": -4,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5610,
"mane_select": "NM_001184900.3",
"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": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "c.-43-989C>G",
"hgvs_p": null,
"transcript": "ENST00000520153.5",
"protein_id": "ENSP00000428736.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 487,
"cds_start": -4,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2617,
"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": 13,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "c.-43-989C>G",
"hgvs_p": null,
"transcript": "ENST00000520753.5",
"protein_id": "ENSP00000429839.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 392,
"cds_start": -4,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3041,
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "c.-43-989C>G",
"hgvs_p": null,
"transcript": "ENST00000519332.5",
"protein_id": "ENSP00000430108.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 70,
"cds_start": -4,
"cds_end": null,
"cds_length": 213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "n.-43-989C>G",
"hgvs_p": null,
"transcript": "ENST00000518622.5",
"protein_id": "ENSP00000430057.1",
"transcript_support_level": 1,
"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": 5233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "n.-43-989C>G",
"hgvs_p": null,
"transcript": "ENST00000518979.5",
"protein_id": "ENSP00000430495.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "n.-43-989C>G",
"hgvs_p": null,
"transcript": "ENST00000522773.5",
"protein_id": "ENSP00000429362.1",
"transcript_support_level": 1,
"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": 2884,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "c.-62C>G",
"hgvs_p": null,
"transcript": "NM_001351789.2",
"protein_id": "NP_001338718.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 342,
"cds_start": -4,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "c.-43-989C>G",
"hgvs_p": null,
"transcript": "NM_001351782.2",
"protein_id": "NP_001338711.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 537,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 5917,
"mane_select": null,
"mane_plus": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "c.-43-989C>G",
"hgvs_p": null,
"transcript": "ENST00000519940.6",
"protein_id": "ENSP00000428883.1",
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},
{
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"consequences": [
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],
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"gene_symbol": "CARD8",
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"transcript": "NM_001184901.1",
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},
{
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"consequences": [
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],
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"gene_symbol": "CARD8",
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"hgvs_c": "c.-43-989C>G",
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"transcript": "NM_001351783.2",
"protein_id": "NP_001338712.1",
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},
{
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],
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"gene_symbol": "CARD8",
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"hgvs_c": "c.-43-989C>G",
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"transcript": "NM_014959.5",
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},
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],
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},
{
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],
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"intron_rank": 2,
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"gene_symbol": "CARD8",
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},
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],
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"gene_symbol": "CARD8",
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"hgvs_c": "c.-167-989C>G",
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"transcript": "NM_001351784.2",
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},
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],
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"intron_rank": 2,
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"gene_symbol": "CARD8",
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"hgvs_c": "c.-167-989C>G",
"hgvs_p": null,
"transcript": "NM_001365950.1",
"protein_id": "NP_001352879.1",
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},
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"strand": false,
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],
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"intron_rank": 2,
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"gene_symbol": "CARD8",
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"hgvs_c": "c.-381-989C>G",
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],
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},
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],
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},
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "CARD8",
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"hgvs_c": "c.-43-989C>G",
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"transcript": "ENST00000520015.5",
"protein_id": "ENSP00000430747.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "c.-167-989C>G",
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"transcript": "NM_001351787.2",
"protein_id": "NP_001338716.1",
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},
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