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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: 7-95813378-T-TA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=95813378&ref=T&alt=TA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 95813378,
"ref": "T",
"alt": "TA",
"effect": "intron_variant",
"transcript": "NM_004411.5",
"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": 17,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DYNC1I1",
"gene_hgnc_id": 2963,
"hgvs_c": "c.314+56dupA",
"hgvs_p": null,
"transcript": "NM_001135556.2",
"protein_id": "NP_001129028.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 628,
"cds_start": null,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000447467.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135556.2"
},
{
"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": 17,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DYNC1I1",
"gene_hgnc_id": 2963,
"hgvs_c": "c.314+41_314+42insA",
"hgvs_p": null,
"transcript": "ENST00000447467.6",
"protein_id": "ENSP00000392337.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 628,
"cds_start": null,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001135556.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447467.6"
},
{
"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": 17,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DYNC1I1",
"gene_hgnc_id": 2963,
"hgvs_c": "c.365+41_365+42insA",
"hgvs_p": null,
"transcript": "ENST00000324972.10",
"protein_id": "ENSP00000320130.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 645,
"cds_start": null,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000324972.10"
},
{
"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": 17,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DYNC1I1",
"gene_hgnc_id": 2963,
"hgvs_c": "c.314+41_314+42insA",
"hgvs_p": null,
"transcript": "ENST00000457059.2",
"protein_id": "ENSP00000412444.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 628,
"cds_start": null,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457059.2"
},
{
"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": 16,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DYNC1I1",
"gene_hgnc_id": 2963,
"hgvs_c": "c.365+41_365+42insA",
"hgvs_p": null,
"transcript": "ENST00000437599.5",
"protein_id": "ENSP00000398118.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 625,
"cds_start": null,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000437599.5"
},
{
"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": 16,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DYNC1I1",
"gene_hgnc_id": 2963,
"hgvs_c": "c.314+41_314+42insA",
"hgvs_p": null,
"transcript": "ENST00000359388.8",
"protein_id": "ENSP00000352348.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 608,
"cds_start": null,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359388.8"
},
{
"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": 18,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DYNC1I1",
"gene_hgnc_id": 2963,
"hgvs_c": "c.314+41_314+42insA",
"hgvs_p": null,
"transcript": "ENST00000944549.1",
"protein_id": "ENSP00000614608.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 653,
"cds_start": null,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944549.1"
},
{
"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": 18,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DYNC1I1",
"gene_hgnc_id": 2963,
"hgvs_c": "c.365+41_365+42insA",
"hgvs_p": null,
"transcript": "ENST00000944554.1",
"protein_id": "ENSP00000614613.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 650,
"cds_start": null,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944554.1"
},
{
"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": 18,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DYNC1I1",
"gene_hgnc_id": 2963,
"hgvs_c": "c.314+41_314+42insA",
"hgvs_p": null,
"transcript": "ENST00000944553.1",
"protein_id": "ENSP00000614612.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 647,
"cds_start": null,
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"cds_length": 1944,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944553.1"
},
{
"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": 17,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DYNC1I1",
"gene_hgnc_id": 2963,
"hgvs_c": "c.365+56dupA",
"hgvs_p": null,
"transcript": "NM_004411.5",
"protein_id": "NP_004402.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 645,
"cds_start": null,
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"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004411.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 4,
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"gene_symbol": "DYNC1I1",
"gene_hgnc_id": 2963,
"hgvs_c": "c.314+41_314+42insA",
"hgvs_p": null,
"transcript": "ENST00000944547.1",
"protein_id": "ENSP00000614606.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 639,
"cds_start": null,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "DYNC1I1",
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"hgvs_c": "c.314+41_314+42insA",
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"transcript": "ENST00000944555.1",
"protein_id": "ENSP00000614614.1",
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"cds_start": null,
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},
{
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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": 18,
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"gene_symbol": "DYNC1I1",
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"hgvs_c": "c.314+41_314+42insA",
"hgvs_p": null,
"transcript": "ENST00000944556.1",
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"cdna_start": null,
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"feature": "ENST00000944556.1"
},
{
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"strand": true,
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],
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"gene_symbol": "DYNC1I1",
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},
{
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],
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"intron_rank": 4,
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"gene_symbol": "DYNC1I1",
"gene_hgnc_id": 2963,
"hgvs_c": "c.314+41_314+42insA",
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"transcript": "ENST00000872654.1",
"protein_id": "ENSP00000542713.1",
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},
{
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],
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"gene_symbol": "DYNC1I1",
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"feature": "ENST00000944548.1"
},
{
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"strand": true,
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],
"exon_rank": null,
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"intron_rank": 4,
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"gene_symbol": "DYNC1I1",
"gene_hgnc_id": 2963,
"hgvs_c": "c.365+56dupA",
"hgvs_p": null,
"transcript": "NM_001278421.2",
"protein_id": "NP_001265350.1",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 4,
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"gene_symbol": "DYNC1I1",
"gene_hgnc_id": 2963,
"hgvs_c": "c.314+41_314+42insA",
"hgvs_p": null,
"transcript": "ENST00000944557.1",
"protein_id": "ENSP00000614616.1",
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},
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],
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"gene_symbol": "DYNC1I1",
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},
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],
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"gene_symbol": "DYNC1I1",
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"hgvs_c": "c.281+41_281+42insA",
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},
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],
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"intron_rank": 4,
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"gene_symbol": "DYNC1I1",
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"hgvs_c": "c.314+56dupA",
"hgvs_p": null,
"transcript": "NM_001135557.2",
"protein_id": "NP_001129029.1",
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135557.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DYNC1I1",
"gene_hgnc_id": 2963,
"hgvs_c": "c.314+41_314+42insA",
"hgvs_p": null,
"transcript": "ENST00000944560.1",
"protein_id": "ENSP00000614619.1",
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"biotype": "protein_coding",
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},
{
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}
],
"message": null
}