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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: 5-95464697-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=95464697&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 95464697,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_014639.4",
"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": 43,
"intron_rank": 42,
"intron_rank_end": null,
"gene_symbol": "SKIC3",
"gene_hgnc_id": 23639,
"hgvs_c": "c.4621-16A>G",
"hgvs_p": null,
"transcript": "NM_014639.4",
"protein_id": "NP_055454.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1564,
"cds_start": null,
"cds_end": null,
"cds_length": 4695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5677,
"mane_select": "ENST00000358746.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014639.4"
},
{
"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": 43,
"intron_rank": 42,
"intron_rank_end": null,
"gene_symbol": "SKIC3",
"gene_hgnc_id": 23639,
"hgvs_c": "c.4621-16A>G",
"hgvs_p": null,
"transcript": "ENST00000358746.7",
"protein_id": "ENSP00000351596.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1564,
"cds_start": null,
"cds_end": null,
"cds_length": 4695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5677,
"mane_select": "NM_014639.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358746.7"
},
{
"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": 43,
"intron_rank": 42,
"intron_rank_end": null,
"gene_symbol": "SKIC3",
"gene_hgnc_id": 23639,
"hgvs_c": "c.4678-16A>G",
"hgvs_p": null,
"transcript": "ENST00000969289.1",
"protein_id": "ENSP00000639348.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1583,
"cds_start": null,
"cds_end": null,
"cds_length": 4752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5698,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969289.1"
},
{
"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": 44,
"intron_rank": 43,
"intron_rank_end": null,
"gene_symbol": "SKIC3",
"gene_hgnc_id": 23639,
"hgvs_c": "c.4663-16A>G",
"hgvs_p": null,
"transcript": "ENST00000698479.1",
"protein_id": "ENSP00000513748.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1578,
"cds_start": null,
"cds_end": null,
"cds_length": 4737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6910,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698479.1"
},
{
"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": 43,
"intron_rank": 42,
"intron_rank_end": null,
"gene_symbol": "SKIC3",
"gene_hgnc_id": 23639,
"hgvs_c": "c.4639-16A>G",
"hgvs_p": null,
"transcript": "ENST00000918735.1",
"protein_id": "ENSP00000588794.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1570,
"cds_start": null,
"cds_end": null,
"cds_length": 4713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5726,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918735.1"
},
{
"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": 44,
"intron_rank": 43,
"intron_rank_end": null,
"gene_symbol": "SKIC3",
"gene_hgnc_id": 23639,
"hgvs_c": "c.4621-16A>G",
"hgvs_p": null,
"transcript": "ENST00000649566.1",
"protein_id": "ENSP00000497948.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1564,
"cds_start": null,
"cds_end": null,
"cds_length": 4695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8038,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649566.1"
},
{
"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": 43,
"intron_rank": 42,
"intron_rank_end": null,
"gene_symbol": "SKIC3",
"gene_hgnc_id": 23639,
"hgvs_c": "c.4621-16A>G",
"hgvs_p": null,
"transcript": "ENST00000901193.1",
"protein_id": "ENSP00000571252.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1564,
"cds_start": null,
"cds_end": null,
"cds_length": 4695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5680,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901193.1"
},
{
"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": 43,
"intron_rank": 42,
"intron_rank_end": null,
"gene_symbol": "SKIC3",
"gene_hgnc_id": 23639,
"hgvs_c": "c.4621-16A>G",
"hgvs_p": null,
"transcript": "ENST00000918736.1",
"protein_id": "ENSP00000588795.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1564,
"cds_start": null,
"cds_end": null,
"cds_length": 4695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5694,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918736.1"
},
{
"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": 44,
"intron_rank": 43,
"intron_rank_end": null,
"gene_symbol": "SKIC3",
"gene_hgnc_id": 23639,
"hgvs_c": "c.4621-16A>G",
"hgvs_p": null,
"transcript": "ENST00000918737.1",
"protein_id": "ENSP00000588796.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1564,
"cds_start": null,
"cds_end": null,
"cds_length": 4695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5835,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918737.1"
},
{
"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": 42,
"intron_rank": 41,
"intron_rank_end": null,
"gene_symbol": "SKIC3",
"gene_hgnc_id": 23639,
"hgvs_c": "c.4621-16A>G",
"hgvs_p": null,
"transcript": "ENST00000969290.1",
"protein_id": "ENSP00000639349.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1564,
"cds_start": null,
"cds_end": null,
"cds_length": 4695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4994,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969290.1"
},
{
"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": 43,
"intron_rank": 42,
"intron_rank_end": null,
"gene_symbol": "SKIC3",
"gene_hgnc_id": 23639,
"hgvs_c": "c.4618-16A>G",
"hgvs_p": null,
"transcript": "ENST00000901192.1",
"protein_id": "ENSP00000571251.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1563,
"cds_start": null,
"cds_end": null,
"cds_length": 4692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5684,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901192.1"
},
{
"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": 43,
"intron_rank": 42,
"intron_rank_end": null,
"gene_symbol": "SKIC3",
"gene_hgnc_id": 23639,
"hgvs_c": "c.4615-16A>G",
"hgvs_p": null,
"transcript": "ENST00000698487.1",
"protein_id": "ENSP00000513753.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1562,
"cds_start": null,
"cds_end": null,
"cds_length": 4689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6862,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698487.1"
},
{
"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": 43,
"intron_rank": 42,
"intron_rank_end": null,
"gene_symbol": "SKIC3",
"gene_hgnc_id": 23639,
"hgvs_c": "c.4612-16A>G",
"hgvs_p": null,
"transcript": "ENST00000698454.1",
"protein_id": "ENSP00000513736.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1561,
"cds_start": null,
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"cds_length": 4686,
"cdna_start": null,
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"cdna_length": 7807,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698454.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": 42,
"intron_rank_end": null,
"gene_symbol": "SKIC3",
"gene_hgnc_id": 23639,
"hgvs_c": "c.4612-16A>G",
"hgvs_p": null,
"transcript": "ENST00000698490.1",
"protein_id": "ENSP00000513755.1",
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"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698490.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": 41,
"intron_rank_end": null,
"gene_symbol": "SKIC3",
"gene_hgnc_id": 23639,
"hgvs_c": "c.4480-16A>G",
"hgvs_p": null,
"transcript": "ENST00000969288.1",
"protein_id": "ENSP00000639347.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1517,
"cds_start": null,
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"cds_length": 4554,
"cdna_start": null,
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"cdna_length": 5522,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969288.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": 41,
"intron_rank_end": null,
"gene_symbol": "SKIC3",
"gene_hgnc_id": 23639,
"hgvs_c": "c.4411-16A>G",
"hgvs_p": null,
"transcript": "ENST00000698457.1",
"protein_id": "ENSP00000513739.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698457.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": 41,
"intron_rank_end": null,
"gene_symbol": "SKIC3",
"gene_hgnc_id": 23639,
"hgvs_c": "c.4273-16A>G",
"hgvs_p": null,
"transcript": "ENST00000969287.1",
"protein_id": "ENSP00000639346.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1448,
"cds_start": null,
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"cds_length": 4347,
"cdna_start": null,
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"cdna_length": 5596,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969287.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": 42,
"intron_rank_end": null,
"gene_symbol": "SKIC3",
"gene_hgnc_id": 23639,
"hgvs_c": "c.4621-16A>G",
"hgvs_p": null,
"transcript": "XM_047417937.1",
"protein_id": "XP_047273893.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1564,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_047417937.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 39,
"intron_rank_end": null,
"gene_symbol": "SKIC3",
"gene_hgnc_id": 23639,
"hgvs_c": "n.6113-16A>G",
"hgvs_p": null,
"transcript": "ENST00000506007.2",
"protein_id": null,
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"aa_start": null,
"aa_end": null,
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"cdna_start": null,
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"cdna_length": 8070,
"mane_select": null,
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"biotype": "retained_intron",
"feature": "ENST00000506007.2"
},
{
"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": 40,
"intron_rank": 39,
"intron_rank_end": null,
"gene_symbol": "SKIC3",
"gene_hgnc_id": 23639,
"hgvs_c": "n.*3444-16A>G",
"hgvs_p": null,
"transcript": "ENST00000513232.2",
"protein_id": "ENSP00000422749.2",
"transcript_support_level": 3,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"cdna_length": 6939,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000513232.2"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "SKIC3",
"gene_hgnc_id": 23639,
"hgvs_c": "n.4005-16A>G",
"hgvs_p": null,
"transcript": "ENST00000698450.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6931,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000698450.1"
},
{
"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": 32,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "SKIC3",
"gene_hgnc_id": 23639,
"hgvs_c": "n.4291-16A>G",
"hgvs_p": null,
"transcript": "ENST00000698451.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7217,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000698451.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
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"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
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}
],
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}