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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: 14-102027264-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=102027264&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 102027264,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001376.5",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1H1",
"gene_hgnc_id": 2961,
"hgvs_c": "c.8862C>T",
"hgvs_p": "p.Asn2954Asn",
"transcript": "NM_001376.5",
"protein_id": "NP_001367.2",
"transcript_support_level": null,
"aa_start": 2954,
"aa_end": null,
"aa_length": 4646,
"cds_start": 8862,
"cds_end": null,
"cds_length": 13941,
"cdna_start": 8981,
"cdna_end": null,
"cdna_length": 19940,
"mane_select": "ENST00000360184.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1H1",
"gene_hgnc_id": 2961,
"hgvs_c": "c.8862C>T",
"hgvs_p": "p.Asn2954Asn",
"transcript": "ENST00000360184.10",
"protein_id": "ENSP00000348965.4",
"transcript_support_level": 1,
"aa_start": 2954,
"aa_end": null,
"aa_length": 4646,
"cds_start": 8862,
"cds_end": null,
"cds_length": 13941,
"cdna_start": 8981,
"cdna_end": null,
"cdna_length": 19940,
"mane_select": "NM_001376.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 77,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1H1",
"gene_hgnc_id": 2961,
"hgvs_c": "c.8862C>T",
"hgvs_p": "p.Asn2954Asn",
"transcript": "ENST00000681574.1",
"protein_id": "ENSP00000505523.1",
"transcript_support_level": null,
"aa_start": 2954,
"aa_end": null,
"aa_length": 4672,
"cds_start": 8862,
"cds_end": null,
"cds_length": 14019,
"cdna_start": 8981,
"cdna_end": null,
"cdna_length": 14519,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1H1",
"gene_hgnc_id": 2961,
"hgvs_c": "c.8862C>T",
"hgvs_p": "p.Asn2954Asn",
"transcript": "ENST00000679720.1",
"protein_id": "ENSP00000505938.1",
"transcript_support_level": null,
"aa_start": 2954,
"aa_end": null,
"aa_length": 4637,
"cds_start": 8862,
"cds_end": null,
"cds_length": 13914,
"cdna_start": 8981,
"cdna_end": null,
"cdna_length": 19903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1H1",
"gene_hgnc_id": 2961,
"hgvs_c": "c.8862C>T",
"hgvs_p": "p.Asn2954Asn",
"transcript": "ENST00000644881.2",
"protein_id": "ENSP00000495022.2",
"transcript_support_level": null,
"aa_start": 2954,
"aa_end": null,
"aa_length": 4604,
"cds_start": 8862,
"cds_end": null,
"cds_length": 13815,
"cdna_start": 8981,
"cdna_end": null,
"cdna_length": 14291,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 77,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1H1",
"gene_hgnc_id": 2961,
"hgvs_c": "c.8862C>T",
"hgvs_p": "p.Asn2954Asn",
"transcript": "ENST00000645149.2",
"protein_id": "ENSP00000495944.2",
"transcript_support_level": null,
"aa_start": 2954,
"aa_end": null,
"aa_length": 4597,
"cds_start": 8862,
"cds_end": null,
"cds_length": 13794,
"cdna_start": 8981,
"cdna_end": null,
"cdna_length": 14134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1H1",
"gene_hgnc_id": 2961,
"hgvs_c": "c.8862C>T",
"hgvs_p": "p.Asn2954Asn",
"transcript": "ENST00000680137.1",
"protein_id": "ENSP00000505294.1",
"transcript_support_level": null,
"aa_start": 2954,
"aa_end": null,
"aa_length": 3668,
"cds_start": 8862,
"cds_end": null,
"cds_length": 11007,
"cdna_start": 8981,
"cdna_end": null,
"cdna_length": 11328,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1H1",
"gene_hgnc_id": 2961,
"hgvs_c": "c.8862C>T",
"hgvs_p": "p.Asn2954Asn",
"transcript": "ENST00000643508.2",
"protein_id": "ENSP00000495528.2",
"transcript_support_level": null,
"aa_start": 2954,
"aa_end": null,
"aa_length": 3641,
"cds_start": 8862,
"cds_end": null,
"cds_length": 10926,
"cdna_start": 8981,
"cdna_end": null,
"cdna_length": 11802,
"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": 45,
"exon_rank_end": null,
"exon_count": 76,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1H1",
"gene_hgnc_id": 2961,
"hgvs_c": "n.8862C>T",
"hgvs_p": null,
"transcript": "ENST00000645039.2",
"protein_id": "ENSP00000495220.2",
"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": 14031,
"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": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1H1",
"gene_hgnc_id": 2961,
"hgvs_c": "n.317C>T",
"hgvs_p": null,
"transcript": "ENST00000647119.1",
"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": 513,
"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": 12,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1H1",
"gene_hgnc_id": 2961,
"hgvs_c": "n.2416C>T",
"hgvs_p": null,
"transcript": "ENST00000647366.1",
"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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"cdna_length": 7322,
"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 71,
"intron_rank": null,
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"gene_symbol": "DYNC1H1",
"gene_hgnc_id": 2961,
"hgvs_c": "n.8862C>T",
"hgvs_p": null,
"transcript": "ENST00000679486.1",
"protein_id": "ENSP00000506688.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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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": 45,
"exon_rank_end": null,
"exon_count": 65,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1H1",
"gene_hgnc_id": 2961,
"hgvs_c": "n.8862C>T",
"hgvs_p": null,
"transcript": "ENST00000679629.1",
"protein_id": "ENSP00000505589.1",
"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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"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": 45,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
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"gene_symbol": "DYNC1H1",
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"hgvs_c": "n.8862C>T",
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1H1",
"gene_hgnc_id": 2961,
"hgvs_c": "n.8862C>T",
"hgvs_p": null,
"transcript": "ENST00000680120.1",
"protein_id": "ENSP00000504863.1",
"transcript_support_level": null,
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"cds_start": -4,
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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": 45,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
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"gene_symbol": "DYNC1H1",
"gene_hgnc_id": 2961,
"hgvs_c": "n.8862C>T",
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"transcript": "ENST00000680200.1",
"protein_id": "ENSP00000506166.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
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"gene_symbol": "DYNC1H1",
"gene_hgnc_id": 2961,
"hgvs_c": "n.8862C>T",
"hgvs_p": null,
"transcript": "ENST00000680313.1",
"protein_id": "ENSP00000506208.1",
"transcript_support_level": null,
"aa_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": 45,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1H1",
"gene_hgnc_id": 2961,
"hgvs_c": "n.*593C>T",
"hgvs_p": null,
"transcript": "ENST00000680423.1",
"protein_id": "ENSP00000505483.1",
"transcript_support_level": null,
"aa_start": null,
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
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"gene_symbol": "DYNC1H1",
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"hgvs_c": "n.8862C>T",
"hgvs_p": null,
"transcript": "ENST00000680715.1",
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},
{
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"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
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"gene_symbol": "DYNC1H1",
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"hgvs_c": "n.8862C>T",
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"transcript": "ENST00000680874.1",
"protein_id": "ENSP00000504911.1",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
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"exon_count": 71,
"intron_rank": null,
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"gene_symbol": "DYNC1H1",
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"hgvs_c": "n.8862C>T",
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"transcript": "ENST00000681010.1",
"protein_id": "ENSP00000505201.1",
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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": 45,
"exon_rank_end": null,
"exon_count": 77,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1H1",
"gene_hgnc_id": 2961,
"hgvs_c": "n.8862C>T",
"hgvs_p": null,
"transcript": "ENST00000681066.1",
"protein_id": "ENSP00000506344.1",
"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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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 66,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1H1",
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{
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"phenotype_combined": "Charcot-Marie-Tooth disease axonal type 2O",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}