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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: 8-56212711-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=56212711&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 56212711,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000355315.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CHCHD7",
"gene_hgnc_id": 28314,
"hgvs_c": "c.-17+874T>C",
"hgvs_p": null,
"transcript": "NM_001011671.3",
"protein_id": "NP_001011671.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 85,
"cds_start": -4,
"cds_end": null,
"cds_length": 258,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1697,
"mane_select": "ENST00000355315.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CHCHD7",
"gene_hgnc_id": 28314,
"hgvs_c": "c.-17+874T>C",
"hgvs_p": null,
"transcript": "ENST00000355315.8",
"protein_id": "ENSP00000347469.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 85,
"cds_start": -4,
"cds_end": null,
"cds_length": 258,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1697,
"mane_select": "NM_001011671.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CHCHD7",
"gene_hgnc_id": 28314,
"hgvs_c": "c.-89-51T>C",
"hgvs_p": null,
"transcript": "ENST00000303759.3",
"protein_id": "ENSP00000306425.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 110,
"cds_start": -4,
"cds_end": null,
"cds_length": 333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CHCHD7",
"gene_hgnc_id": 28314,
"hgvs_c": "c.-108-51T>C",
"hgvs_p": null,
"transcript": "ENST00000523975.5",
"protein_id": "ENSP00000428917.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 97,
"cds_start": -4,
"cds_end": null,
"cds_length": 294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CHCHD7",
"gene_hgnc_id": 28314,
"hgvs_c": "c.-137-51T>C",
"hgvs_p": null,
"transcript": "ENST00000396723.9",
"protein_id": "ENSP00000379949.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 94,
"cds_start": -4,
"cds_end": null,
"cds_length": 285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CHCHD7",
"gene_hgnc_id": 28314,
"hgvs_c": "c.-108-51T>C",
"hgvs_p": null,
"transcript": "ENST00000518801.5",
"protein_id": "ENSP00000428274.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 68,
"cds_start": -4,
"cds_end": null,
"cds_length": 207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1670,
"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": "CHCHD7",
"gene_hgnc_id": 28314,
"hgvs_c": "n.923T>C",
"hgvs_p": null,
"transcript": "ENST00000522166.1",
"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": 3157,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CHCHD7",
"gene_hgnc_id": 28314,
"hgvs_c": "c.-89-51T>C",
"hgvs_p": null,
"transcript": "NM_001011668.3",
"protein_id": "NP_001011668.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 110,
"cds_start": -4,
"cds_end": null,
"cds_length": 333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1845,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CHCHD7",
"gene_hgnc_id": 28314,
"hgvs_c": "c.-108-51T>C",
"hgvs_p": null,
"transcript": "NM_024300.5",
"protein_id": "NP_077276.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 97,
"cds_start": -4,
"cds_end": null,
"cds_length": 294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CHCHD7",
"gene_hgnc_id": 28314,
"hgvs_c": "c.-89-51T>C",
"hgvs_p": null,
"transcript": "NM_001011667.3",
"protein_id": "NP_001011667.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 81,
"cds_start": -4,
"cds_end": null,
"cds_length": 246,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CHCHD7",
"gene_hgnc_id": 28314,
"hgvs_c": "c.-108-51T>C",
"hgvs_p": null,
"transcript": "NM_001011669.3",
"protein_id": "NP_001011669.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 68,
"cds_start": -4,
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"cds_length": 207,
"cdna_start": null,
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"cdna_length": 1869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CHCHD7",
"gene_hgnc_id": 28314,
"hgvs_c": "c.-108-51T>C",
"hgvs_p": null,
"transcript": "NM_001317858.2",
"protein_id": "NP_001304787.1",
"transcript_support_level": null,
"aa_start": null,
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"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": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CHCHD7",
"gene_hgnc_id": 28314,
"hgvs_c": "c.-108-51T>C",
"hgvs_p": null,
"transcript": "ENST00000521524.5",
"protein_id": "ENSP00000430458.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 68,
"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CHCHD7",
"gene_hgnc_id": 28314,
"hgvs_c": "c.-17+874T>C",
"hgvs_p": null,
"transcript": "ENST00000517933.5",
"protein_id": "ENSP00000430350.1",
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},
{
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"strand": true,
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"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "CHCHD7",
"gene_hgnc_id": 28314,
"hgvs_c": "c.-17+874T>C",
"hgvs_p": null,
"transcript": "NM_001011670.3",
"protein_id": "NP_001011670.1",
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"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": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CHCHD7",
"gene_hgnc_id": 28314,
"hgvs_c": "c.-17+874T>C",
"hgvs_p": null,
"transcript": "ENST00000521831.5",
"protein_id": "ENSP00000429635.1",
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"aa_start": null,
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},
{
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],
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"intron_rank": 1,
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"gene_symbol": "CHCHD7",
"gene_hgnc_id": 28314,
"hgvs_c": "c.-17+874T>C",
"hgvs_p": null,
"transcript": "NM_001317859.2",
"protein_id": "NP_001304788.1",
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CHCHD7",
"gene_hgnc_id": 28314,
"hgvs_c": "c.-17+874T>C",
"hgvs_p": null,
"transcript": "ENST00000523061.5",
"protein_id": "ENSP00000430882.1",
"transcript_support_level": 3,
"aa_start": null,
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"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": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CHCHD7",
"gene_hgnc_id": 28314,
"hgvs_c": "c.-17+537T>C",
"hgvs_p": null,
"transcript": "ENST00000517636.5",
"protein_id": "ENSP00000429230.1",
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},
{
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"strand": true,
"consequences": [
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],
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"intron_rank": 1,
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"gene_symbol": "CHCHD7",
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"hgvs_c": "n.53-51T>C",
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"transcript": "ENST00000518169.1",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CHCHD7",
"gene_hgnc_id": 28314,
"hgvs_c": "n.-137-51T>C",
"hgvs_p": null,
"transcript": "ENST00000521982.5",
"protein_id": "ENSP00000430714.1",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CHCHD7",
"gene_hgnc_id": 28314,
"hgvs_c": "n.49+874T>C",
"hgvs_p": null,
"transcript": "ENST00000522366.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CHCHD7",
"gene_hgnc_id": 28314,
"hgvs_c": "n.-137-51T>C",
"hgvs_p": null,
"transcript": "ENST00000523532.5",
"protein_id": "ENSP00000430498.1",
"transcript_support_level": 4,
"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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}
],
"message": null
}