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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: 6-31968891-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=31968891&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 31968891,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000375394.7",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIC2",
"gene_hgnc_id": 10898,
"hgvs_c": "c.3201T>C",
"hgvs_p": "p.Tyr1067Tyr",
"transcript": "NM_006929.5",
"protein_id": "NP_008860.4",
"transcript_support_level": null,
"aa_start": 1067,
"aa_end": null,
"aa_length": 1246,
"cds_start": 3201,
"cds_end": null,
"cds_length": 3741,
"cdna_start": 3219,
"cdna_end": null,
"cdna_length": 3795,
"mane_select": "ENST00000375394.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIC2",
"gene_hgnc_id": 10898,
"hgvs_c": "c.3201T>C",
"hgvs_p": "p.Tyr1067Tyr",
"transcript": "ENST00000375394.7",
"protein_id": "ENSP00000364543.2",
"transcript_support_level": 1,
"aa_start": 1067,
"aa_end": null,
"aa_length": 1246,
"cds_start": 3201,
"cds_end": null,
"cds_length": 3741,
"cdna_start": 3219,
"cdna_end": null,
"cdna_length": 3795,
"mane_select": "NM_006929.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIC2",
"gene_hgnc_id": 10898,
"hgvs_c": "n.3837T>C",
"hgvs_p": null,
"transcript": "ENST00000465703.5",
"protein_id": null,
"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": 4507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIC2",
"gene_hgnc_id": 10898,
"hgvs_c": "c.3237T>C",
"hgvs_p": "p.Tyr1079Tyr",
"transcript": "ENST00000697840.1",
"protein_id": "ENSP00000513458.1",
"transcript_support_level": null,
"aa_start": 1079,
"aa_end": null,
"aa_length": 1258,
"cds_start": 3237,
"cds_end": null,
"cds_length": 3777,
"cdna_start": 3259,
"cdna_end": null,
"cdna_length": 3822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIC2",
"gene_hgnc_id": 10898,
"hgvs_c": "c.3132T>C",
"hgvs_p": "p.Tyr1044Tyr",
"transcript": "ENST00000697831.1",
"protein_id": "ENSP00000513453.1",
"transcript_support_level": null,
"aa_start": 1044,
"aa_end": null,
"aa_length": 1223,
"cds_start": 3132,
"cds_end": null,
"cds_length": 3672,
"cdna_start": 3209,
"cdna_end": null,
"cdna_length": 3814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIC2",
"gene_hgnc_id": 10898,
"hgvs_c": "c.3066T>C",
"hgvs_p": "p.Tyr1022Tyr",
"transcript": "ENST00000697838.1",
"protein_id": "ENSP00000513457.1",
"transcript_support_level": null,
"aa_start": 1022,
"aa_end": null,
"aa_length": 1201,
"cds_start": 3066,
"cds_end": null,
"cds_length": 3606,
"cdna_start": 3102,
"cdna_end": null,
"cdna_length": 3706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIC2",
"gene_hgnc_id": 10898,
"hgvs_c": "c.3201T>C",
"hgvs_p": "p.Tyr1067Tyr",
"transcript": "ENST00000491994.2",
"protein_id": "ENSP00000417586.2",
"transcript_support_level": 2,
"aa_start": 1067,
"aa_end": null,
"aa_length": 1183,
"cds_start": 3201,
"cds_end": null,
"cds_length": 3552,
"cdna_start": 3255,
"cdna_end": null,
"cdna_length": 3896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIC2",
"gene_hgnc_id": 10898,
"hgvs_c": "n.*2155T>C",
"hgvs_p": null,
"transcript": "ENST00000461073.6",
"protein_id": "ENSP00000419905.1",
"transcript_support_level": 2,
"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": 3639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIC2",
"gene_hgnc_id": 10898,
"hgvs_c": "n.147T>C",
"hgvs_p": null,
"transcript": "ENST00000470453.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIC2",
"gene_hgnc_id": 10898,
"hgvs_c": "n.*2573T>C",
"hgvs_p": null,
"transcript": "ENST00000474839.5",
"protein_id": "ENSP00000420470.1",
"transcript_support_level": 2,
"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": 3378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIC2",
"gene_hgnc_id": 10898,
"hgvs_c": "n.*168T>C",
"hgvs_p": null,
"transcript": "ENST00000483553.6",
"protein_id": "ENSP00000420332.2",
"transcript_support_level": 5,
"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": 3737,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIC2",
"gene_hgnc_id": 10898,
"hgvs_c": "n.836T>C",
"hgvs_p": null,
"transcript": "ENST00000484835.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIC2",
"gene_hgnc_id": 10898,
"hgvs_c": "n.3487T>C",
"hgvs_p": null,
"transcript": "ENST00000485349.6",
"protein_id": null,
"transcript_support_level": 2,
"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": 4223,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIC2",
"gene_hgnc_id": 10898,
"hgvs_c": "n.3503T>C",
"hgvs_p": null,
"transcript": "ENST00000494058.6",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
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"aa_length": null,
"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": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIC2",
"gene_hgnc_id": 10898,
"hgvs_c": "n.3354T>C",
"hgvs_p": null,
"transcript": "ENST00000697832.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 3917,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIC2",
"gene_hgnc_id": 10898,
"hgvs_c": "n.*149T>C",
"hgvs_p": null,
"transcript": "ENST00000697833.1",
"protein_id": "ENSP00000513454.1",
"transcript_support_level": null,
"aa_start": null,
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"cdna_start": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIC2",
"gene_hgnc_id": 10898,
"hgvs_c": "n.3635T>C",
"hgvs_p": null,
"transcript": "ENST00000697834.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 4466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIC2",
"gene_hgnc_id": 10898,
"hgvs_c": "n.*2719T>C",
"hgvs_p": null,
"transcript": "ENST00000697835.1",
"protein_id": "ENSP00000513455.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 3876,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIC2",
"gene_hgnc_id": 10898,
"hgvs_c": "n.3532T>C",
"hgvs_p": null,
"transcript": "ENST00000697836.1",
"protein_id": null,
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIC2",
"gene_hgnc_id": 10898,
"hgvs_c": "n.*317T>C",
"hgvs_p": null,
"transcript": "ENST00000697837.1",
"protein_id": "ENSP00000513456.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIC2",
"gene_hgnc_id": 10898,
"hgvs_c": "n.3729T>C",
"hgvs_p": null,
"transcript": "ENST00000697839.1",
"protein_id": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIC2",
"gene_hgnc_id": 10898,
"hgvs_c": "n.4018T>C",
"hgvs_p": null,
"transcript": "ENST00000697841.1",
"protein_id": null,
"transcript_support_level": null,
"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": 4667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIC2",
"gene_hgnc_id": 10898,
"hgvs_c": "n.3456T>C",
"hgvs_p": null,
"transcript": "ENST00000697842.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"phenotype_combined": "Trichohepatoenteric syndrome 2|not specified|not provided",
"pathogenicity_classification_combined": "Benign",
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}
],
"message": null
}