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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: 2-201039743-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=201039743&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 201039743,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000681958.1",
"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": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HYCC2",
"gene_hgnc_id": 28593,
"hgvs_c": "c.-31+5753A>G",
"hgvs_p": null,
"transcript": "NM_001321623.1",
"protein_id": "NP_001308552.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 586,
"cds_start": -4,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9503,
"mane_select": "ENST00000681958.1",
"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": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HYCC2",
"gene_hgnc_id": 28593,
"hgvs_c": "c.-31+5753A>G",
"hgvs_p": null,
"transcript": "ENST00000681958.1",
"protein_id": "ENSP00000507218.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 586,
"cds_start": -4,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9503,
"mane_select": "NM_001321623.1",
"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": "HYCC2",
"gene_hgnc_id": 28593,
"hgvs_c": "c.-31+5753A>G",
"hgvs_p": null,
"transcript": "ENST00000418596.7",
"protein_id": "ENSP00000393667.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 530,
"cds_start": -4,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9333,
"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": "HYCC2",
"gene_hgnc_id": 28593,
"hgvs_c": "n.-31+5753A>G",
"hgvs_p": null,
"transcript": "ENST00000286181.7",
"protein_id": "ENSP00000286181.3",
"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": 4778,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "HYCC2",
"gene_hgnc_id": 28593,
"hgvs_c": "c.-30-15704A>G",
"hgvs_p": null,
"transcript": "NM_001321624.1",
"protein_id": "NP_001308553.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 586,
"cds_start": -4,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9405,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "HYCC2",
"gene_hgnc_id": 28593,
"hgvs_c": "c.-31+5753A>G",
"hgvs_p": null,
"transcript": "NM_001321625.2",
"protein_id": "NP_001308554.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 586,
"cds_start": -4,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9659,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "HYCC2",
"gene_hgnc_id": 28593,
"hgvs_c": "c.-30-15704A>G",
"hgvs_p": null,
"transcript": "NM_001321626.2",
"protein_id": "NP_001308555.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 586,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 9679,
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HYCC2",
"gene_hgnc_id": 28593,
"hgvs_c": "c.-30-15704A>G",
"hgvs_p": null,
"transcript": "NM_001321618.1",
"protein_id": "NP_001308547.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 530,
"cds_start": -4,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9237,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "HYCC2",
"gene_hgnc_id": 28593,
"hgvs_c": "c.-31+5753A>G",
"hgvs_p": null,
"transcript": "NM_001321619.2",
"protein_id": "NP_001308548.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 530,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 9491,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 1,
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"gene_symbol": "HYCC2",
"gene_hgnc_id": 28593,
"hgvs_c": "c.-30-15704A>G",
"hgvs_p": null,
"transcript": "NM_001321621.2",
"protein_id": "NP_001308550.1",
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 3,
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"gene_symbol": "HYCC2",
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"hgvs_c": "c.-31+5753A>G",
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"transcript": "NM_001321622.2",
"protein_id": "NP_001308551.1",
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},
{
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],
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},
{
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],
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"gene_symbol": "HYCC2",
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],
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},
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],
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},
{
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],
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"gene_symbol": "HYCC2",
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},
{
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],
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"gene_symbol": "HYCC2",
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"hgvs_c": "c.-31+5753A>G",
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"transcript": "ENST00000446678.5",
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},
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],
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],
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],
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"hgvs_c": "n.158+5753A>G",
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},
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"consequences": [
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],
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"intron_rank": 1,
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"gene_symbol": "HYCC2",
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"hgvs_c": "c.-30-15704A>G",
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},
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}
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}