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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: 16-23623096-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=23623096&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 23623096,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000261584.9",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.2869A>G",
"hgvs_p": "p.Lys957Glu",
"transcript": "NM_024675.4",
"protein_id": "NP_078951.2",
"transcript_support_level": null,
"aa_start": 957,
"aa_end": null,
"aa_length": 1186,
"cds_start": 2869,
"cds_end": null,
"cds_length": 3561,
"cdna_start": 3022,
"cdna_end": null,
"cdna_length": 4008,
"mane_select": "ENST00000261584.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.2869A>G",
"hgvs_p": "p.Lys957Glu",
"transcript": "ENST00000261584.9",
"protein_id": "ENSP00000261584.4",
"transcript_support_level": 1,
"aa_start": 957,
"aa_end": null,
"aa_length": 1186,
"cds_start": 2869,
"cds_end": null,
"cds_length": 3561,
"cdna_start": 3022,
"cdna_end": null,
"cdna_length": 4008,
"mane_select": "NM_024675.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.1984A>G",
"hgvs_p": "p.Lys662Glu",
"transcript": "ENST00000568219.5",
"protein_id": "ENSP00000454703.2",
"transcript_support_level": 1,
"aa_start": 662,
"aa_end": null,
"aa_length": 891,
"cds_start": 1984,
"cds_end": null,
"cds_length": 2676,
"cdna_start": 2980,
"cdna_end": null,
"cdna_length": 3963,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.2875A>G",
"hgvs_p": "p.Lys959Glu",
"transcript": "ENST00000561514.3",
"protein_id": "ENSP00000460666.3",
"transcript_support_level": 5,
"aa_start": 959,
"aa_end": null,
"aa_length": 1188,
"cds_start": 2875,
"cds_end": null,
"cds_length": 3567,
"cdna_start": 3874,
"cdna_end": null,
"cdna_length": 4825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.2875A>G",
"hgvs_p": "p.Lys959Glu",
"transcript": "ENST00000697379.2",
"protein_id": "ENSP00000513287.2",
"transcript_support_level": null,
"aa_start": 959,
"aa_end": null,
"aa_length": 1188,
"cds_start": 2875,
"cds_end": null,
"cds_length": 3567,
"cdna_start": 3174,
"cdna_end": null,
"cdna_length": 4125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.2809A>G",
"hgvs_p": "p.Lys937Glu",
"transcript": "NM_001407296.1",
"protein_id": "NP_001394225.1",
"transcript_support_level": null,
"aa_start": 937,
"aa_end": null,
"aa_length": 1166,
"cds_start": 2809,
"cds_end": null,
"cds_length": 3501,
"cdna_start": 2962,
"cdna_end": null,
"cdna_length": 3948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.2797A>G",
"hgvs_p": "p.Lys933Glu",
"transcript": "NM_001407297.1",
"protein_id": "NP_001394226.1",
"transcript_support_level": null,
"aa_start": 933,
"aa_end": null,
"aa_length": 1162,
"cds_start": 2797,
"cds_end": null,
"cds_length": 3489,
"cdna_start": 2950,
"cdna_end": null,
"cdna_length": 3936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.2713A>G",
"hgvs_p": "p.Lys905Glu",
"transcript": "ENST00000697377.2",
"protein_id": "ENSP00000513286.2",
"transcript_support_level": null,
"aa_start": 905,
"aa_end": null,
"aa_length": 1134,
"cds_start": 2713,
"cds_end": null,
"cds_length": 3405,
"cdna_start": 3106,
"cdna_end": null,
"cdna_length": 4058,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.2707A>G",
"hgvs_p": "p.Lys903Glu",
"transcript": "NM_001407298.1",
"protein_id": "NP_001394227.1",
"transcript_support_level": null,
"aa_start": 903,
"aa_end": null,
"aa_length": 1132,
"cds_start": 2707,
"cds_end": null,
"cds_length": 3399,
"cdna_start": 2860,
"cdna_end": null,
"cdna_length": 3846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.2869A>G",
"hgvs_p": "p.Lys957Glu",
"transcript": "NM_001407299.1",
"protein_id": "NP_001394228.1",
"transcript_support_level": null,
"aa_start": 957,
"aa_end": null,
"aa_length": 1107,
"cds_start": 2869,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 3022,
"cdna_end": null,
"cdna_length": 3771,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.2869A>G",
"hgvs_p": "p.Lys957Glu",
"transcript": "ENST00000713774.1",
"protein_id": "ENSP00000519076.1",
"transcript_support_level": null,
"aa_start": 957,
"aa_end": null,
"aa_length": 1107,
"cds_start": 2869,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 3023,
"cdna_end": null,
"cdna_length": 3754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.2869A>G",
"hgvs_p": "p.Lys957Glu",
"transcript": "NM_001407301.1",
"protein_id": "NP_001394230.1",
"transcript_support_level": null,
"aa_start": 957,
"aa_end": null,
"aa_length": 1071,
"cds_start": 2869,
"cds_end": null,
"cds_length": 3216,
"cdna_start": 3022,
"cdna_end": null,
"cdna_length": 3859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.2869A>G",
"hgvs_p": "p.Lys957Glu",
"transcript": "ENST00000566069.6",
"protein_id": "ENSP00000459237.2",
"transcript_support_level": 5,
"aa_start": 957,
"aa_end": null,
"aa_length": 1071,
"cds_start": 2869,
"cds_end": null,
"cds_length": 3216,
"cdna_start": 3008,
"cdna_end": null,
"cdna_length": 3850,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.2707A>G",
"hgvs_p": "p.Lys903Glu",
"transcript": "NM_001407302.1",
"protein_id": "NP_001394231.1",
"transcript_support_level": null,
"aa_start": 903,
"aa_end": null,
"aa_length": 1017,
"cds_start": 2707,
"cds_end": null,
"cds_length": 3054,
"cdna_start": 2860,
"cdna_end": null,
"cdna_length": 3697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.1984A>G",
"hgvs_p": "p.Lys662Glu",
"transcript": "NM_001407304.1",
"protein_id": "NP_001394233.1",
"transcript_support_level": null,
"aa_start": 662,
"aa_end": null,
"aa_length": 891,
"cds_start": 1984,
"cds_end": null,
"cds_length": 2676,
"cdna_start": 3880,
"cdna_end": null,
"cdna_length": 4866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.1984A>G",
"hgvs_p": "p.Lys662Glu",
"transcript": "NM_001407305.1",
"protein_id": "NP_001394234.1",
"transcript_support_level": null,
"aa_start": 662,
"aa_end": null,
"aa_length": 891,
"cds_start": 1984,
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"cdna_start": 3156,
"cdna_end": null,
"cdna_length": 4142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.1984A>G",
"hgvs_p": "p.Lys662Glu",
"transcript": "NM_001407306.1",
"protein_id": "NP_001394235.1",
"transcript_support_level": null,
"aa_start": 662,
"aa_end": null,
"aa_length": 891,
"cds_start": 1984,
"cds_end": null,
"cds_length": 2676,
"cdna_start": 3005,
"cdna_end": null,
"cdna_length": 3991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.1984A>G",
"hgvs_p": "p.Lys662Glu",
"transcript": "ENST00000697374.1",
"protein_id": "ENSP00000513284.1",
"transcript_support_level": null,
"aa_start": 662,
"aa_end": null,
"aa_length": 891,
"cds_start": 1984,
"cds_end": null,
"cds_length": 2676,
"cdna_start": 3392,
"cdna_end": null,
"cdna_length": 4361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.1822A>G",
"hgvs_p": "p.Lys608Glu",
"transcript": "NM_001407307.1",
"protein_id": "NP_001394236.1",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
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"cdna_start": 2994,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.1984A>G",
"hgvs_p": "p.Lys662Glu",
"transcript": "NM_001407308.1",
"protein_id": "NP_001394237.1",
"transcript_support_level": null,
"aa_start": 662,
"aa_end": null,
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"cds_start": 1984,
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"cdna_start": 3005,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.1984A>G",
"hgvs_p": "p.Lys662Glu",
"transcript": "NM_001407309.1",
"protein_id": "NP_001394238.1",
"transcript_support_level": null,
"aa_start": 662,
"aa_end": null,
"aa_length": 812,
"cds_start": 1984,
"cds_end": null,
"cds_length": 2439,
"cdna_start": 3156,
"cdna_end": null,
"cdna_length": 3905,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.1984A>G",
"hgvs_p": "p.Lys662Glu",
"transcript": "NM_001407310.1",
"protein_id": "NP_001394239.1",
"transcript_support_level": null,
"aa_start": 662,
"aa_end": null,
"aa_length": 776,
"cds_start": 1984,
"cds_end": null,
"cds_length": 2331,
"cdna_start": 3880,
"cdna_end": null,
"cdna_length": 4717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
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}
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}