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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: 19-48233449-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=48233449&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 48233449,
"ref": "G",
"alt": "A",
"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": 6,
"intron_rank_end": null,
"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "c.350+954C>T",
"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": 6,
"intron_rank_end": null,
"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "c.350+954C>T",
"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": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "c.350+954C>T",
"hgvs_p": null,
"transcript": "ENST00000391898.7",
"protein_id": "ENSP00000375767.3",
"transcript_support_level": 1,
"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": 5263,
"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": 12,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "c.200+954C>T",
"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": 6,
"intron_rank_end": null,
"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "c.350+954C>T",
"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": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "n.200+954C>T",
"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": 3,
"intron_rank_end": null,
"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "n.200+954C>T",
"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,
"cds_end": null,
"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": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "n.350+954C>T",
"hgvs_p": null,
"transcript": "ENST00000521415.5",
"protein_id": "ENSP00000428862.1",
"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": 1709,
"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": 5,
"intron_rank_end": null,
"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "n.351-45C>T",
"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": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "n.1541C>T",
"hgvs_p": null,
"transcript": "ENST00000522051.5",
"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": 4680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "n.594C>T",
"hgvs_p": null,
"transcript": "ENST00000523750.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 633,
"mane_select": null,
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"biotype": null,
"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": 7,
"intron_rank_end": null,
"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "c.350+954C>T",
"hgvs_p": null,
"transcript": "NM_001351782.2",
"protein_id": "NP_001338711.1",
"transcript_support_level": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 7,
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"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "c.350+954C>T",
"hgvs_p": null,
"transcript": "ENST00000519940.6",
"protein_id": "ENSP00000428883.1",
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"aa_start": null,
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},
{
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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": 3,
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"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "c.200+954C>T",
"hgvs_p": null,
"transcript": "NM_001184901.1",
"protein_id": "NP_001171830.1",
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},
{
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],
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"intron_rank": 5,
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"gene_symbol": "CARD8",
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"hgvs_c": "c.200+954C>T",
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"transcript": "NM_001351783.2",
"protein_id": "NP_001338712.1",
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "c.200+954C>T",
"hgvs_p": null,
"transcript": "NM_014959.5",
"protein_id": "NP_055774.2",
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},
{
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],
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"gene_symbol": "CARD8",
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"hgvs_c": "c.200+954C>T",
"hgvs_p": null,
"transcript": "ENST00000447740.6",
"protein_id": "ENSP00000391248.2",
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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": 12,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "c.200+954C>T",
"hgvs_p": null,
"transcript": "ENST00000521613.5",
"protein_id": "ENSP00000427858.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CARD8",
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"hgvs_c": "c.76+954C>T",
"hgvs_p": null,
"transcript": "NM_001351784.2",
"protein_id": "NP_001338713.1",
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},
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"strand": false,
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],
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"intron_rank": 4,
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},
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 5,
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"gene_symbol": "CARD8",
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},
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "c.350+954C>T",
"hgvs_p": null,
"transcript": "NM_001184902.2",
"protein_id": "NP_001171831.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"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": 11,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "c.350+954C>T",
"hgvs_p": null,
"transcript": "NM_001184903.1",
"protein_id": "NP_001171832.1",
"transcript_support_level": null,
"aa_start": null,
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"cdna_start": null,
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},
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