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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: 14-102047923-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=102047923&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 102047923,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000360184.10",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 73,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1H1",
"gene_hgnc_id": 2961,
"hgvs_c": "c.13113C>T",
"hgvs_p": "p.Asp4371Asp",
"transcript": "NM_001376.5",
"protein_id": "NP_001367.2",
"transcript_support_level": null,
"aa_start": 4371,
"aa_end": null,
"aa_length": 4646,
"cds_start": 13113,
"cds_end": null,
"cds_length": 13941,
"cdna_start": 13232,
"cdna_end": null,
"cdna_length": 19940,
"mane_select": "ENST00000360184.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 73,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1H1",
"gene_hgnc_id": 2961,
"hgvs_c": "c.13113C>T",
"hgvs_p": "p.Asp4371Asp",
"transcript": "ENST00000360184.10",
"protein_id": "ENSP00000348965.4",
"transcript_support_level": 1,
"aa_start": 4371,
"aa_end": null,
"aa_length": 4646,
"cds_start": 13113,
"cds_end": null,
"cds_length": 13941,
"cdna_start": 13232,
"cdna_end": null,
"cdna_length": 19940,
"mane_select": "NM_001376.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 73,
"exon_rank_end": null,
"exon_count": 77,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1H1",
"gene_hgnc_id": 2961,
"hgvs_c": "c.13113C>T",
"hgvs_p": "p.Asp4371Asp",
"transcript": "ENST00000681574.1",
"protein_id": "ENSP00000505523.1",
"transcript_support_level": null,
"aa_start": 4371,
"aa_end": null,
"aa_length": 4672,
"cds_start": 13113,
"cds_end": null,
"cds_length": 14019,
"cdna_start": 13232,
"cdna_end": null,
"cdna_length": 14519,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 73,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1H1",
"gene_hgnc_id": 2961,
"hgvs_c": "c.13113C>T",
"hgvs_p": "p.Asp4371Asp",
"transcript": "ENST00000679720.1",
"protein_id": "ENSP00000505938.1",
"transcript_support_level": null,
"aa_start": 4371,
"aa_end": null,
"aa_length": 4637,
"cds_start": 13113,
"cds_end": null,
"cds_length": 13914,
"cdna_start": 13232,
"cdna_end": null,
"cdna_length": 19903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 73,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1H1",
"gene_hgnc_id": 2961,
"hgvs_c": "c.13113C>T",
"hgvs_p": "p.Asp4371Asp",
"transcript": "ENST00000644881.2",
"protein_id": "ENSP00000495022.2",
"transcript_support_level": null,
"aa_start": 4371,
"aa_end": null,
"aa_length": 4604,
"cds_start": 13113,
"cds_end": null,
"cds_length": 13815,
"cdna_start": 13232,
"cdna_end": null,
"cdna_length": 14291,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 72,
"exon_rank_end": null,
"exon_count": 77,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1H1",
"gene_hgnc_id": 2961,
"hgvs_c": "c.12966C>T",
"hgvs_p": "p.Asp4322Asp",
"transcript": "ENST00000645149.2",
"protein_id": "ENSP00000495944.2",
"transcript_support_level": null,
"aa_start": 4322,
"aa_end": null,
"aa_length": 4597,
"cds_start": 12966,
"cds_end": null,
"cds_length": 13794,
"cdna_start": 13085,
"cdna_end": null,
"cdna_length": 14134,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1H1",
"gene_hgnc_id": 2961,
"hgvs_c": "n.186C>T",
"hgvs_p": null,
"transcript": "ENST00000555062.2",
"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": 1374,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1H1",
"gene_hgnc_id": 2961,
"hgvs_c": "n.506C>T",
"hgvs_p": null,
"transcript": "ENST00000556229.2",
"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": 2292,
"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": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1H1",
"gene_hgnc_id": 2961,
"hgvs_c": "n.3067C>T",
"hgvs_p": null,
"transcript": "ENST00000643437.1",
"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": 4773,
"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": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1H1",
"gene_hgnc_id": 2961,
"hgvs_c": "n.906C>T",
"hgvs_p": null,
"transcript": "ENST00000643591.1",
"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": 2950,
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1H1",
"gene_hgnc_id": 2961,
"hgvs_c": "n.259C>T",
"hgvs_p": null,
"transcript": "ENST00000643729.1",
"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": 2863,
"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": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1H1",
"gene_hgnc_id": 2961,
"hgvs_c": "n.3069C>T",
"hgvs_p": null,
"transcript": "ENST00000643829.1",
"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": 4050,
"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": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1H1",
"gene_hgnc_id": 2961,
"hgvs_c": "n.1249C>T",
"hgvs_p": null,
"transcript": "ENST00000644239.2",
"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": 2298,
"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": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1H1",
"gene_hgnc_id": 2961,
"hgvs_c": "n.3232C>T",
"hgvs_p": null,
"transcript": "ENST00000644794.1",
"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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"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": 71,
"exon_rank_end": null,
"exon_count": 76,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1H1",
"gene_hgnc_id": 2961,
"hgvs_c": "n.*964C>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,
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"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": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1H1",
"gene_hgnc_id": 2961,
"hgvs_c": "n.1359C>T",
"hgvs_p": null,
"transcript": "ENST00000645085.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 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": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1H1",
"gene_hgnc_id": 2961,
"hgvs_c": "n.261C>T",
"hgvs_p": null,
"transcript": "ENST00000647143.1",
"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": 2554,
"mane_select": null,
"mane_plus": null,
"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": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1H1",
"gene_hgnc_id": 2961,
"hgvs_c": "n.2449C>T",
"hgvs_p": null,
"transcript": "ENST00000647204.2",
"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": 4235,
"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": 40,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1H1",
"gene_hgnc_id": 2961,
"hgvs_c": "n.6667C>T",
"hgvs_p": null,
"transcript": "ENST00000647366.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
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"biotype": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 73,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1H1",
"gene_hgnc_id": 2961,
"hgvs_c": "n.*4195C>T",
"hgvs_p": null,
"transcript": "ENST00000679910.1",
"protein_id": "ENSP00000506521.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 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": 73,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1H1",
"gene_hgnc_id": 2961,
"hgvs_c": "n.13113C>T",
"hgvs_p": null,
"transcript": "ENST00000680120.1",
"protein_id": "ENSP00000504863.1",
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"aa_start": null,
"aa_end": null,
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"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1H1",
"gene_hgnc_id": 2961,
"hgvs_c": "n.185C>T",
"hgvs_p": null,
"transcript": "ENST00000680178.1",
"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": 2854,
"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": 73,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1H1",
"gene_hgnc_id": 2961,
"hgvs_c": "n.*2372C>T",
"hgvs_p": null,
"transcript": "ENST00000680200.1",
"protein_id": "ENSP00000506166.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"inheritance_mode": "",
"hgvs_c": "n.346+2522G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Charcot-Marie-Tooth disease axonal type 2O,not provided,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4",
"phenotype_combined": "not specified|Charcot-Marie-Tooth disease axonal type 2O|not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}