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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: 10-103447178-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=103447178&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 103447178,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_015916.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALHM2",
"gene_hgnc_id": 23493,
"hgvs_c": "c.946G>A",
"hgvs_p": "p.Val316Met",
"transcript": "NM_015916.5",
"protein_id": "NP_057000.2",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 323,
"cds_start": 946,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000260743.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015916.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALHM2",
"gene_hgnc_id": 23493,
"hgvs_c": "c.946G>A",
"hgvs_p": "p.Val316Met",
"transcript": "ENST00000260743.10",
"protein_id": "ENSP00000260743.5",
"transcript_support_level": 1,
"aa_start": 316,
"aa_end": null,
"aa_length": 323,
"cds_start": 946,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015916.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000260743.10"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALHM2",
"gene_hgnc_id": 23493,
"hgvs_c": "c.946G>A",
"hgvs_p": "p.Val316Met",
"transcript": "ENST00000369788.7",
"protein_id": "ENSP00000358803.3",
"transcript_support_level": 2,
"aa_start": 316,
"aa_end": null,
"aa_length": 323,
"cds_start": 946,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369788.7"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALHM2",
"gene_hgnc_id": 23493,
"hgvs_c": "c.946G>A",
"hgvs_p": "p.Val316Met",
"transcript": "ENST00000882006.1",
"protein_id": "ENSP00000552065.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 323,
"cds_start": 946,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882006.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALHM2",
"gene_hgnc_id": 23493,
"hgvs_c": "c.946G>A",
"hgvs_p": "p.Val316Met",
"transcript": "ENST00000882007.1",
"protein_id": "ENSP00000552066.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 323,
"cds_start": 946,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882007.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALHM2",
"gene_hgnc_id": 23493,
"hgvs_c": "c.946G>A",
"hgvs_p": "p.Val316Met",
"transcript": "ENST00000882008.1",
"protein_id": "ENSP00000552067.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 323,
"cds_start": 946,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882008.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALHM2",
"gene_hgnc_id": 23493,
"hgvs_c": "c.946G>A",
"hgvs_p": "p.Val316Met",
"transcript": "ENST00000882009.1",
"protein_id": "ENSP00000552068.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 323,
"cds_start": 946,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882009.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALHM2",
"gene_hgnc_id": 23493,
"hgvs_c": "c.946G>A",
"hgvs_p": "p.Val316Met",
"transcript": "ENST00000882010.1",
"protein_id": "ENSP00000552069.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 323,
"cds_start": 946,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882010.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALHM2",
"gene_hgnc_id": 23493,
"hgvs_c": "c.946G>A",
"hgvs_p": "p.Val316Met",
"transcript": "ENST00000882011.1",
"protein_id": "ENSP00000552070.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 323,
"cds_start": 946,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882011.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALHM2",
"gene_hgnc_id": 23493,
"hgvs_c": "c.946G>A",
"hgvs_p": "p.Val316Met",
"transcript": "ENST00000882012.1",
"protein_id": "ENSP00000552071.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 323,
"cds_start": 946,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882012.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALHM2",
"gene_hgnc_id": 23493,
"hgvs_c": "c.946G>A",
"hgvs_p": "p.Val316Met",
"transcript": "ENST00000882013.1",
"protein_id": "ENSP00000552072.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 323,
"cds_start": 946,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882013.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALHM2",
"gene_hgnc_id": 23493,
"hgvs_c": "c.946G>A",
"hgvs_p": "p.Val316Met",
"transcript": "ENST00000882014.1",
"protein_id": "ENSP00000552073.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 323,
"cds_start": 946,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882014.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALHM2",
"gene_hgnc_id": 23493,
"hgvs_c": "c.946G>A",
"hgvs_p": "p.Val316Met",
"transcript": "ENST00000882015.1",
"protein_id": "ENSP00000552074.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 323,
"cds_start": 946,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882015.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
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"gene_symbol": "CALHM2",
"gene_hgnc_id": 23493,
"hgvs_c": "c.946G>A",
"hgvs_p": "p.Val316Met",
"transcript": "ENST00000882016.1",
"protein_id": "ENSP00000552075.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
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"cds_start": 946,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882016.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALHM2",
"gene_hgnc_id": 23493,
"hgvs_c": "c.946G>A",
"hgvs_p": "p.Val316Met",
"transcript": "ENST00000882017.1",
"protein_id": "ENSP00000552076.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 323,
"cds_start": 946,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882017.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "CALHM2",
"gene_hgnc_id": 23493,
"hgvs_c": "c.946G>A",
"hgvs_p": "p.Val316Met",
"transcript": "ENST00000882018.1",
"protein_id": "ENSP00000552077.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 323,
"cds_start": 946,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882018.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALHM2",
"gene_hgnc_id": 23493,
"hgvs_c": "c.946G>A",
"hgvs_p": "p.Val316Met",
"transcript": "ENST00000882019.1",
"protein_id": "ENSP00000552078.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 323,
"cds_start": 946,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882019.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALHM2",
"gene_hgnc_id": 23493,
"hgvs_c": "c.946G>A",
"hgvs_p": "p.Val316Met",
"transcript": "ENST00000936390.1",
"protein_id": "ENSP00000606449.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 323,
"cds_start": 946,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000936390.1"
},
{
"aa_ref": "V",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALHM2",
"gene_hgnc_id": 23493,
"hgvs_c": "c.946G>A",
"hgvs_p": "p.Val316Met",
"transcript": "ENST00000936391.1",
"protein_id": "ENSP00000606450.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
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"cds_start": 946,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936391.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALHM2",
"gene_hgnc_id": 23493,
"hgvs_c": "c.946G>A",
"hgvs_p": "p.Val316Met",
"transcript": "ENST00000964393.1",
"protein_id": "ENSP00000634452.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 323,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964393.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALHM2",
"gene_hgnc_id": 23493,
"hgvs_c": "c.946G>A",
"hgvs_p": "p.Val316Met",
"transcript": "ENST00000964394.1",
"protein_id": "ENSP00000634453.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 323,
"cds_start": 946,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964394.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALHM2",
"gene_hgnc_id": 23493,
"hgvs_c": "c.946G>A",
"hgvs_p": "p.Val316Met",
"transcript": "ENST00000964395.1",
"protein_id": "ENSP00000634454.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 323,
"cds_start": 946,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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}