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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: 19-42293752-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=42293752&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 42293752,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000681038.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIC",
"gene_hgnc_id": 14214,
"hgvs_c": "c.6683C>T",
"hgvs_p": "p.Pro2228Leu",
"transcript": "NM_001386298.1",
"protein_id": "NP_001373227.1",
"transcript_support_level": null,
"aa_start": 2228,
"aa_end": null,
"aa_length": 2517,
"cds_start": 6683,
"cds_end": null,
"cds_length": 7554,
"cdna_start": 6823,
"cdna_end": null,
"cdna_length": 8299,
"mane_select": "ENST00000681038.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIC",
"gene_hgnc_id": 14214,
"hgvs_c": "c.6683C>T",
"hgvs_p": "p.Pro2228Leu",
"transcript": "ENST00000681038.1",
"protein_id": "ENSP00000505728.1",
"transcript_support_level": null,
"aa_start": 2228,
"aa_end": null,
"aa_length": 2517,
"cds_start": 6683,
"cds_end": null,
"cds_length": 7554,
"cdna_start": 6823,
"cdna_end": null,
"cdna_length": 8299,
"mane_select": "NM_001386298.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIC",
"gene_hgnc_id": 14214,
"hgvs_c": "c.3956C>T",
"hgvs_p": "p.Pro1319Leu",
"transcript": "ENST00000575354.6",
"protein_id": "ENSP00000458663.2",
"transcript_support_level": 1,
"aa_start": 1319,
"aa_end": null,
"aa_length": 1608,
"cds_start": 3956,
"cds_end": null,
"cds_length": 4827,
"cdna_start": 3996,
"cdna_end": null,
"cdna_length": 5473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIC",
"gene_hgnc_id": 14214,
"hgvs_c": "c.6683C>T",
"hgvs_p": "p.Pro2228Leu",
"transcript": "NM_001304815.2",
"protein_id": "NP_001291744.1",
"transcript_support_level": null,
"aa_start": 2228,
"aa_end": null,
"aa_length": 2517,
"cds_start": 6683,
"cds_end": null,
"cds_length": 7554,
"cdna_start": 6758,
"cdna_end": null,
"cdna_length": 8234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIC",
"gene_hgnc_id": 14214,
"hgvs_c": "c.6680C>T",
"hgvs_p": "p.Pro2227Leu",
"transcript": "NM_001379480.1",
"protein_id": "NP_001366409.1",
"transcript_support_level": null,
"aa_start": 2227,
"aa_end": null,
"aa_length": 2516,
"cds_start": 6680,
"cds_end": null,
"cds_length": 7551,
"cdna_start": 6820,
"cdna_end": null,
"cdna_length": 8296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIC",
"gene_hgnc_id": 14214,
"hgvs_c": "c.6683C>T",
"hgvs_p": "p.Pro2228Leu",
"transcript": "NM_001379482.1",
"protein_id": "NP_001366411.1",
"transcript_support_level": null,
"aa_start": 2228,
"aa_end": null,
"aa_length": 2516,
"cds_start": 6683,
"cds_end": null,
"cds_length": 7551,
"cdna_start": 6823,
"cdna_end": null,
"cdna_length": 8296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIC",
"gene_hgnc_id": 14214,
"hgvs_c": "c.6683C>T",
"hgvs_p": "p.Pro2228Leu",
"transcript": "NM_001439183.1",
"protein_id": "NP_001426112.1",
"transcript_support_level": null,
"aa_start": 2228,
"aa_end": null,
"aa_length": 2516,
"cds_start": 6683,
"cds_end": null,
"cds_length": 7551,
"cdna_start": 6758,
"cdna_end": null,
"cdna_length": 8231,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIC",
"gene_hgnc_id": 14214,
"hgvs_c": "c.6680C>T",
"hgvs_p": "p.Pro2227Leu",
"transcript": "NM_001439184.1",
"protein_id": "NP_001426113.1",
"transcript_support_level": null,
"aa_start": 2227,
"aa_end": null,
"aa_length": 2515,
"cds_start": 6680,
"cds_end": null,
"cds_length": 7548,
"cdna_start": 6820,
"cdna_end": null,
"cdna_length": 8293,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIC",
"gene_hgnc_id": 14214,
"hgvs_c": "c.6680C>T",
"hgvs_p": "p.Pro2227Leu",
"transcript": "NM_001439185.1",
"protein_id": "NP_001426114.1",
"transcript_support_level": null,
"aa_start": 2227,
"aa_end": null,
"aa_length": 2515,
"cds_start": 6680,
"cds_end": null,
"cds_length": 7548,
"cdna_start": 6755,
"cdna_end": null,
"cdna_length": 8228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIC",
"gene_hgnc_id": 14214,
"hgvs_c": "c.6683C>T",
"hgvs_p": "p.Pro2228Leu",
"transcript": "NM_001439186.1",
"protein_id": "NP_001426115.1",
"transcript_support_level": null,
"aa_start": 2228,
"aa_end": null,
"aa_length": 2515,
"cds_start": 6683,
"cds_end": null,
"cds_length": 7548,
"cdna_start": 6758,
"cdna_end": null,
"cdna_length": 8228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIC",
"gene_hgnc_id": 14214,
"hgvs_c": "c.6683C>T",
"hgvs_p": "p.Pro2228Leu",
"transcript": "NM_001439187.1",
"protein_id": "NP_001426116.1",
"transcript_support_level": null,
"aa_start": 2228,
"aa_end": null,
"aa_length": 2514,
"cds_start": 6683,
"cds_end": null,
"cds_length": 7545,
"cdna_start": 6758,
"cdna_end": null,
"cdna_length": 8225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIC",
"gene_hgnc_id": 14214,
"hgvs_c": "c.6677C>T",
"hgvs_p": "p.Pro2226Leu",
"transcript": "ENST00000572681.6",
"protein_id": "ENSP00000459719.1",
"transcript_support_level": 5,
"aa_start": 2226,
"aa_end": null,
"aa_length": 2514,
"cds_start": 6677,
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"cds_length": 7545,
"cdna_start": 6745,
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"cdna_length": 8218,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIC",
"gene_hgnc_id": 14214,
"hgvs_c": "c.6680C>T",
"hgvs_p": "p.Pro2227Leu",
"transcript": "NM_001439188.1",
"protein_id": "NP_001426117.1",
"transcript_support_level": null,
"aa_start": 2227,
"aa_end": null,
"aa_length": 2513,
"cds_start": 6680,
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"cds_length": 7542,
"cdna_start": 6755,
"cdna_end": null,
"cdna_length": 8222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIC",
"gene_hgnc_id": 14214,
"hgvs_c": "c.3956C>T",
"hgvs_p": "p.Pro1319Leu",
"transcript": "NM_015125.5",
"protein_id": "NP_055940.3",
"transcript_support_level": null,
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"cds_start": 3956,
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"cdna_start": 4192,
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"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIC",
"gene_hgnc_id": 14214,
"hgvs_c": "c.3953C>T",
"hgvs_p": "p.Pro1318Leu",
"transcript": "NM_001439189.1",
"protein_id": "NP_001426118.1",
"transcript_support_level": null,
"aa_start": 1318,
"aa_end": null,
"aa_length": 1607,
"cds_start": 3953,
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"cds_length": 4824,
"cdna_start": 4189,
"cdna_end": null,
"cdna_length": 5665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
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"gene_symbol": "CIC",
"gene_hgnc_id": 14214,
"hgvs_c": "c.3956C>T",
"hgvs_p": "p.Pro1319Leu",
"transcript": "NM_001439190.1",
"protein_id": "NP_001426119.1",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIC",
"gene_hgnc_id": 14214,
"hgvs_c": "c.3956C>T",
"hgvs_p": "p.Pro1319Leu",
"transcript": "NM_001379484.1",
"protein_id": "NP_001366413.1",
"transcript_support_level": null,
"aa_start": 1319,
"aa_end": null,
"aa_length": 1606,
"cds_start": 3956,
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"cds_length": 4821,
"cdna_start": 4192,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIC",
"gene_hgnc_id": 14214,
"hgvs_c": "c.3953C>T",
"hgvs_p": "p.Pro1318Leu",
"transcript": "NM_001439191.1",
"protein_id": "NP_001426120.1",
"transcript_support_level": null,
"aa_start": 1318,
"aa_end": null,
"aa_length": 1606,
"cds_start": 3953,
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"cdna_start": 4189,
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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": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIC",
"gene_hgnc_id": 14214,
"hgvs_c": "c.3950C>T",
"hgvs_p": "p.Pro1317Leu",
"transcript": "ENST00000160740.7",
"protein_id": "ENSP00000160740.3",
"transcript_support_level": 5,
"aa_start": 1317,
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},
{
"aa_ref": "P",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIC",
"gene_hgnc_id": 14214,
"hgvs_c": "c.3956C>T",
"hgvs_p": "p.Pro1319Leu",
"transcript": "NM_001379485.1",
"protein_id": "NP_001366414.1",
"transcript_support_level": null,
"aa_start": 1319,
"aa_end": null,
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"cdna_start": 4192,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIC",
"gene_hgnc_id": 14214,
"hgvs_c": "c.95C>T",
"hgvs_p": "p.Pro32Leu",
"transcript": "ENST00000576505.6",
"protein_id": "ENSP00000459011.2",
"transcript_support_level": 3,
"aa_start": 32,
"aa_end": null,
"aa_length": 319,
"cds_start": 95,
"cds_end": null,
"cds_length": 960,
"cdna_start": 96,
"cdna_end": null,
"cdna_length": 1304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIC",
"gene_hgnc_id": 14214,
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Pro49Leu",
"transcript": "ENST00000573349.5",
"protein_id": "ENSP00000458543.1",
"transcript_support_level": 2,
"aa_start": 49,
"aa_end": null,
"aa_length": 308,
"cds_start": 146,
"cds_end": null,
"cds_length": 927,
"cdna_start": 146,
"cdna_end": null,
"cdna_length": 927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIC",
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