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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: 2-203462916-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=203462916&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 203462916,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000319170.10",
"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": 4,
"intron_rank_end": null,
"gene_symbol": "RAPH1",
"gene_hgnc_id": 14436,
"hgvs_c": "c.733-991A>G",
"hgvs_p": null,
"transcript": "NM_213589.3",
"protein_id": "NP_998754.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1250,
"cds_start": -4,
"cds_end": null,
"cds_length": 3753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9699,
"mane_select": "ENST00000319170.10",
"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": 4,
"intron_rank_end": null,
"gene_symbol": "RAPH1",
"gene_hgnc_id": 14436,
"hgvs_c": "c.733-991A>G",
"hgvs_p": null,
"transcript": "ENST00000319170.10",
"protein_id": "ENSP00000316543.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1250,
"cds_start": -4,
"cds_end": null,
"cds_length": 3753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9699,
"mane_select": "NM_213589.3",
"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": 15,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RAPH1",
"gene_hgnc_id": 14436,
"hgvs_c": "c.889-991A>G",
"hgvs_p": null,
"transcript": "ENST00000453034.5",
"protein_id": "ENSP00000406662.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 649,
"cds_start": -4,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2394,
"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": 16,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RAPH1",
"gene_hgnc_id": 14436,
"hgvs_c": "c.889-991A>G",
"hgvs_p": null,
"transcript": "ENST00000308091.8",
"protein_id": "ENSP00000311293.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 644,
"cds_start": -4,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2768,
"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": 16,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RAPH1",
"gene_hgnc_id": 14436,
"hgvs_c": "c.889-991A>G",
"hgvs_p": null,
"transcript": "NM_001439019.1",
"protein_id": "NP_001425948.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1302,
"cds_start": -4,
"cds_end": null,
"cds_length": 3909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9855,
"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": 15,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RAPH1",
"gene_hgnc_id": 14436,
"hgvs_c": "c.889-991A>G",
"hgvs_p": null,
"transcript": "ENST00000374493.7",
"protein_id": "ENSP00000363617.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1302,
"cds_start": -4,
"cds_end": null,
"cds_length": 3909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3909,
"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": 16,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RAPH1",
"gene_hgnc_id": 14436,
"hgvs_c": "c.889-991A>G",
"hgvs_p": null,
"transcript": "ENST00000630330.2",
"protein_id": "ENSP00000486548.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1302,
"cds_start": -4,
"cds_end": null,
"cds_length": 3909,
"cdna_start": null,
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"cdna_length": 4134,
"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": 15,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RAPH1",
"gene_hgnc_id": 14436,
"hgvs_c": "c.814-991A>G",
"hgvs_p": null,
"transcript": "NM_001439027.1",
"protein_id": "NP_001425956.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1277,
"cds_start": -4,
"cds_end": null,
"cds_length": 3834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9780,
"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": 15,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RAPH1",
"gene_hgnc_id": 14436,
"hgvs_c": "c.808-991A>G",
"hgvs_p": null,
"transcript": "NM_001439024.1",
"protein_id": "NP_001425953.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1275,
"cds_start": -4,
"cds_end": null,
"cds_length": 3828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RAPH1",
"gene_hgnc_id": 14436,
"hgvs_c": "c.808-991A>G",
"hgvs_p": null,
"transcript": "NM_001439030.1",
"protein_id": "NP_001425959.1",
"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": 15,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RAPH1",
"gene_hgnc_id": 14436,
"hgvs_c": "c.733-991A>G",
"hgvs_p": null,
"transcript": "NM_001439031.1",
"protein_id": "NP_001425960.1",
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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": 16,
"intron_rank": 6,
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"gene_symbol": "RAPH1",
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"transcript": "NM_001329728.2",
"protein_id": "NP_001316657.1",
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},
{
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"strand": false,
"consequences": [
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],
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"exon_count": 16,
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"gene_symbol": "RAPH1",
"gene_hgnc_id": 14436,
"hgvs_c": "c.889-991A>G",
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"transcript": "NM_203365.4",
"protein_id": "NP_976241.1",
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},
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],
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"gene_symbol": "RAPH1",
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"hgvs_c": "c.814-991A>G",
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"transcript": "ENST00000423104.5",
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],
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},
{
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],
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"intron_rank": 3,
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"gene_symbol": "RAPH1",
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"hgvs_c": "c.733-991A>G",
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"transcript": "ENST00000418114.5",
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"gene_symbol": "RAPH1",
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"hgvs_c": "c.733-991A>G",
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},
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],
"exon_rank": null,
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"intron_rank": 3,
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"gene_symbol": "RAPH1",
"gene_hgnc_id": 14436,
"hgvs_c": "c.733-991A>G",
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"transcript": "ENST00000419464.5",
"protein_id": "ENSP00000390578.1",
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},
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],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 7,
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"gene_symbol": "RAPH1",
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"hgvs_c": "c.961-991A>G",
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"transcript": "XM_047445538.1",
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},
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],
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},
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"consequences": [
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],
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"intron_rank_end": null,
"gene_symbol": "RAPH1",
"gene_hgnc_id": 14436,
"hgvs_c": "c.889-991A>G",
"hgvs_p": null,
"transcript": "XM_047445539.1",
"protein_id": "XP_047301495.1",
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"mane_select": null,
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"feature": null
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "RAPH1",
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"hgvs_c": "c.889-991A>G",
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"transcript": "XM_047445540.1",
"protein_id": "XP_047301496.1",
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}