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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: 19-41884504-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=41884504&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 41884504,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_001396000.1",
"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": 29,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARHGEF1",
"gene_hgnc_id": 681,
"hgvs_c": "c.-20+1215C>A",
"hgvs_p": null,
"transcript": "NM_004706.4",
"protein_id": "NP_004697.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 912,
"cds_start": null,
"cds_end": null,
"cds_length": 2739,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000354532.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004706.4"
},
{
"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": 29,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARHGEF1",
"gene_hgnc_id": 681,
"hgvs_c": "c.-20+1215C>A",
"hgvs_p": null,
"transcript": "ENST00000354532.8",
"protein_id": "ENSP00000346532.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 912,
"cds_start": null,
"cds_end": null,
"cds_length": 2739,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004706.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354532.8"
},
{
"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": 27,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARHGEF1",
"gene_hgnc_id": 681,
"hgvs_c": "c.26+11C>A",
"hgvs_p": null,
"transcript": "ENST00000378152.8",
"protein_id": "ENSP00000367394.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 948,
"cds_start": null,
"cds_end": null,
"cds_length": 2847,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378152.8"
},
{
"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": 29,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARHGEF1",
"gene_hgnc_id": 681,
"hgvs_c": "c.26+11C>A",
"hgvs_p": null,
"transcript": "ENST00000337665.8",
"protein_id": "ENSP00000337261.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 927,
"cds_start": null,
"cds_end": null,
"cds_length": 2784,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000337665.8"
},
{
"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": 28,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARHGEF1",
"gene_hgnc_id": 681,
"hgvs_c": "c.-20+1215C>A",
"hgvs_p": null,
"transcript": "ENST00000347545.8",
"protein_id": "ENSP00000344429.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 879,
"cds_start": null,
"cds_end": null,
"cds_length": 2640,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000347545.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARHGEF1",
"gene_hgnc_id": 681,
"hgvs_c": "n.107+1215C>A",
"hgvs_p": null,
"transcript": "ENST00000600274.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000600274.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF1",
"gene_hgnc_id": 681,
"hgvs_c": "c.-135C>A",
"hgvs_p": null,
"transcript": "ENST00000938781.1",
"protein_id": "ENSP00000608840.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 912,
"cds_start": null,
"cds_end": null,
"cds_length": 2739,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938781.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF1",
"gene_hgnc_id": 681,
"hgvs_c": "c.-3579C>A",
"hgvs_p": null,
"transcript": "ENST00000938784.1",
"protein_id": "ENSP00000608843.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 912,
"cds_start": null,
"cds_end": null,
"cds_length": 2739,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938784.1"
},
{
"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": 30,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARHGEF1",
"gene_hgnc_id": 681,
"hgvs_c": "c.-20+1215C>A",
"hgvs_p": null,
"transcript": "ENST00000953278.1",
"protein_id": "ENSP00000623337.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 986,
"cds_start": null,
"cds_end": null,
"cds_length": 2961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953278.1"
},
{
"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": 30,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARHGEF1",
"gene_hgnc_id": 681,
"hgvs_c": "c.-20+11C>A",
"hgvs_p": null,
"transcript": "ENST00000953286.1",
"protein_id": "ENSP00000623345.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 986,
"cds_start": null,
"cds_end": null,
"cds_length": 2961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953286.1"
},
{
"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": 29,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARHGEF1",
"gene_hgnc_id": 681,
"hgvs_c": "c.-20+1215C>A",
"hgvs_p": null,
"transcript": "ENST00000698932.1",
"protein_id": "ENSP00000514042.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 975,
"cds_start": null,
"cds_end": null,
"cds_length": 2928,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698932.1"
},
{
"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": 31,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARHGEF1",
"gene_hgnc_id": 681,
"hgvs_c": "c.-20+1215C>A",
"hgvs_p": null,
"transcript": "ENST00000706938.1",
"protein_id": "ENSP00000516658.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 972,
"cds_start": null,
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"cds_length": 2919,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706938.1"
},
{
"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": 32,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARHGEF1",
"gene_hgnc_id": 681,
"hgvs_c": "c.-208+1215C>A",
"hgvs_p": null,
"transcript": "ENST00000953280.1",
"protein_id": "ENSP00000623339.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 972,
"cds_start": null,
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"cds_length": 2919,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953280.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARHGEF1",
"gene_hgnc_id": 681,
"hgvs_c": "c.-20+11C>A",
"hgvs_p": null,
"transcript": "ENST00000953285.1",
"protein_id": "ENSP00000623344.1",
"transcript_support_level": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953285.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARHGEF1",
"gene_hgnc_id": 681,
"hgvs_c": "c.-20+1215C>A",
"hgvs_p": null,
"transcript": "NM_001396000.1",
"protein_id": "NP_001382929.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 968,
"cds_start": null,
"cds_end": null,
"cds_length": 2907,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001396000.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARHGEF1",
"gene_hgnc_id": 681,
"hgvs_c": "c.-20+1215C>A",
"hgvs_p": null,
"transcript": "ENST00000599846.6",
"protein_id": "ENSP00000470715.1",
"transcript_support_level": 5,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000599846.6"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARHGEF1",
"gene_hgnc_id": 681,
"hgvs_c": "c.-20+11C>A",
"hgvs_p": null,
"transcript": "ENST00000854356.1",
"protein_id": "ENSP00000524415.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 968,
"cds_start": null,
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"cds_length": 2907,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854356.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARHGEF1",
"gene_hgnc_id": 681,
"hgvs_c": "c.-20+1215C>A",
"hgvs_p": null,
"transcript": "NM_001396006.1",
"protein_id": "NP_001382935.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 966,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001396006.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARHGEF1",
"gene_hgnc_id": 681,
"hgvs_c": "c.-20+1215C>A",
"hgvs_p": null,
"transcript": "ENST00000854350.1",
"protein_id": "ENSP00000524409.1",
"transcript_support_level": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000854350.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARHGEF1",
"gene_hgnc_id": 681,
"hgvs_c": "c.-20+1215C>A",
"hgvs_p": null,
"transcript": "NM_001396003.1",
"protein_id": "NP_001382932.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001396003.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARHGEF1",
"gene_hgnc_id": 681,
"hgvs_c": "c.-20+1215C>A",
"hgvs_p": null,
"transcript": "ENST00000953275.1",
"protein_id": "ENSP00000623334.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 939,
"cds_start": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953275.1"
},
{
"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": 30,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARHGEF1",
"gene_hgnc_id": 681,
"hgvs_c": "c.-20+11C>A",
"hgvs_p": null,
"transcript": "ENST00000953287.1",
"protein_id": "ENSP00000623346.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 939,
"cds_start": null,
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"cds_length": 2820,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953287.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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"phenotype_combined": "not provided",
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}
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"message": null
}