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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: 7-127976751-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=127976751&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 127976751,
"ref": "T",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_014390.4",
"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": 24,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "SND1",
"gene_hgnc_id": 30646,
"hgvs_c": "c.1670-14196T>A",
"hgvs_p": null,
"transcript": "NM_014390.4",
"protein_id": "NP_055205.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 910,
"cds_start": null,
"cds_end": null,
"cds_length": 2733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3448,
"mane_select": "ENST00000354725.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014390.4"
},
{
"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": 24,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "SND1",
"gene_hgnc_id": 30646,
"hgvs_c": "c.1670-14196T>A",
"hgvs_p": null,
"transcript": "ENST00000354725.8",
"protein_id": "ENSP00000346762.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 910,
"cds_start": null,
"cds_end": null,
"cds_length": 2733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3448,
"mane_select": "NM_014390.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354725.8"
},
{
"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": 25,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "SND1",
"gene_hgnc_id": 30646,
"hgvs_c": "c.1828-14196T>A",
"hgvs_p": null,
"transcript": "ENST00000903603.1",
"protein_id": "ENSP00000573662.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 971,
"cds_start": null,
"cds_end": null,
"cds_length": 2916,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3678,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903603.1"
},
{
"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": 25,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "SND1",
"gene_hgnc_id": 30646,
"hgvs_c": "c.1760-14196T>A",
"hgvs_p": null,
"transcript": "ENST00000915268.1",
"protein_id": "ENSP00000585327.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 940,
"cds_start": null,
"cds_end": null,
"cds_length": 2823,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3563,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915268.1"
},
{
"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": 24,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "SND1",
"gene_hgnc_id": 30646,
"hgvs_c": "c.1827+47422T>A",
"hgvs_p": null,
"transcript": "ENST00000903607.1",
"protein_id": "ENSP00000573666.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 926,
"cds_start": null,
"cds_end": null,
"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3508,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903607.1"
},
{
"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": 25,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "SND1",
"gene_hgnc_id": 30646,
"hgvs_c": "c.1706-14196T>A",
"hgvs_p": null,
"transcript": "ENST00000944753.1",
"protein_id": "ENSP00000614812.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 922,
"cds_start": null,
"cds_end": null,
"cds_length": 2769,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3480,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944753.1"
},
{
"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": 25,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "SND1",
"gene_hgnc_id": 30646,
"hgvs_c": "c.1703-14196T>A",
"hgvs_p": null,
"transcript": "ENST00000944750.1",
"protein_id": "ENSP00000614809.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 921,
"cds_start": null,
"cds_end": null,
"cds_length": 2766,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3510,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944750.1"
},
{
"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": 24,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "SND1",
"gene_hgnc_id": 30646,
"hgvs_c": "c.1676-14196T>A",
"hgvs_p": null,
"transcript": "ENST00000944754.1",
"protein_id": "ENSP00000614813.1",
"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": 3448,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944754.1"
},
{
"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": 24,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "SND1",
"gene_hgnc_id": 30646,
"hgvs_c": "c.1664-14196T>A",
"hgvs_p": null,
"transcript": "ENST00000915267.1",
"protein_id": "ENSP00000585326.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 908,
"cds_start": null,
"cds_end": null,
"cds_length": 2727,
"cdna_start": null,
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"cdna_length": 3479,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915267.1"
},
{
"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": 24,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "SND1",
"gene_hgnc_id": 30646,
"hgvs_c": "c.1670-14196T>A",
"hgvs_p": null,
"transcript": "ENST00000944748.1",
"protein_id": "ENSP00000614807.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 908,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 3504,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944748.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 24,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "SND1",
"gene_hgnc_id": 30646,
"hgvs_c": "c.1661-14196T>A",
"hgvs_p": null,
"transcript": "ENST00000944749.1",
"protein_id": "ENSP00000614808.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 907,
"cds_start": null,
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"cdna_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": "SND1",
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"hgvs_c": "c.1670-14196T>A",
"hgvs_p": null,
"transcript": "ENST00000903609.1",
"protein_id": "ENSP00000573668.1",
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"cds_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000903609.1"
},
{
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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": 24,
"intron_rank": 15,
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"gene_symbol": "SND1",
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"hgvs_c": "c.1658-14196T>A",
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"transcript": "ENST00000944752.1",
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"cdna_start": null,
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"feature": "ENST00000944752.1"
},
{
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"strand": true,
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],
"exon_rank": null,
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"gene_symbol": "SND1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 23,
"intron_rank": 14,
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"gene_symbol": "SND1",
"gene_hgnc_id": 30646,
"hgvs_c": "c.1580-14196T>A",
"hgvs_p": null,
"transcript": "ENST00000915265.1",
"protein_id": "ENSP00000585324.1",
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},
{
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"strand": true,
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],
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"gene_symbol": "SND1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 23,
"intron_rank": 14,
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"gene_symbol": "SND1",
"gene_hgnc_id": 30646,
"hgvs_c": "c.1556-14196T>A",
"hgvs_p": null,
"transcript": "ENST00000903602.1",
"protein_id": "ENSP00000573661.1",
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"feature": "ENST00000903602.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 23,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "SND1",
"gene_hgnc_id": 30646,
"hgvs_c": "c.1670-14196T>A",
"hgvs_p": null,
"transcript": "ENST00000915264.1",
"protein_id": "ENSP00000585323.1",
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},
{
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"strand": true,
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],
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"intron_rank": 14,
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"gene_symbol": "SND1",
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},
{
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"strand": true,
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],
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"gene_symbol": "SND1",
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"hgvs_c": "c.1596+47422T>A",
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"transcript": "ENST00000903605.1",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
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"intron_rank": 15,
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"gene_symbol": "SND1",
"gene_hgnc_id": 30646,
"hgvs_c": "c.1670-14196T>A",
"hgvs_p": null,
"transcript": "ENST00000903601.1",
"protein_id": "ENSP00000573660.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000903601.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 23,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "SND1",
"gene_hgnc_id": 30646,
"hgvs_c": "c.1670-14196T>A",
"hgvs_p": null,
"transcript": "ENST00000915263.1",
"protein_id": "ENSP00000585322.1",
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"aa_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915263.1"
},
{
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"protein_coding": true,
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}
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}