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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: 17-7101700-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=7101700&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 7101700,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001181.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASGR2",
"gene_hgnc_id": 743,
"hgvs_c": "c.796G>A",
"hgvs_p": "p.Glu266Lys",
"transcript": "NM_001201352.2",
"protein_id": "NP_001188281.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 306,
"cds_start": 796,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000691900.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001201352.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASGR2",
"gene_hgnc_id": 743,
"hgvs_c": "c.796G>A",
"hgvs_p": "p.Glu266Lys",
"transcript": "ENST00000691900.1",
"protein_id": "ENSP00000510808.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 306,
"cds_start": 796,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001201352.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000691900.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASGR2",
"gene_hgnc_id": 743,
"hgvs_c": "c.811G>A",
"hgvs_p": "p.Glu271Lys",
"transcript": "ENST00000355035.9",
"protein_id": "ENSP00000347140.5",
"transcript_support_level": 1,
"aa_start": 271,
"aa_end": null,
"aa_length": 311,
"cds_start": 811,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355035.9"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASGR2",
"gene_hgnc_id": 743,
"hgvs_c": "c.754G>A",
"hgvs_p": "p.Glu252Lys",
"transcript": "ENST00000446679.6",
"protein_id": "ENSP00000405844.2",
"transcript_support_level": 1,
"aa_start": 252,
"aa_end": null,
"aa_length": 292,
"cds_start": 754,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446679.6"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASGR2",
"gene_hgnc_id": 743,
"hgvs_c": "c.739G>A",
"hgvs_p": "p.Glu247Lys",
"transcript": "ENST00000254850.11",
"protein_id": "ENSP00000254850.7",
"transcript_support_level": 1,
"aa_start": 247,
"aa_end": null,
"aa_length": 287,
"cds_start": 739,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000254850.11"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASGR2",
"gene_hgnc_id": 743,
"hgvs_c": "c.832G>A",
"hgvs_p": "p.Glu278Lys",
"transcript": "ENST00000870988.1",
"protein_id": "ENSP00000541047.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 318,
"cds_start": 832,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870988.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASGR2",
"gene_hgnc_id": 743,
"hgvs_c": "c.832G>A",
"hgvs_p": "p.Glu278Lys",
"transcript": "ENST00000870994.1",
"protein_id": "ENSP00000541053.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 318,
"cds_start": 832,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870994.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASGR2",
"gene_hgnc_id": 743,
"hgvs_c": "c.832G>A",
"hgvs_p": "p.Glu278Lys",
"transcript": "ENST00000871006.1",
"protein_id": "ENSP00000541065.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 318,
"cds_start": 832,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871006.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASGR2",
"gene_hgnc_id": 743,
"hgvs_c": "c.832G>A",
"hgvs_p": "p.Glu278Lys",
"transcript": "ENST00000871023.1",
"protein_id": "ENSP00000541082.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 318,
"cds_start": 832,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871023.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASGR2",
"gene_hgnc_id": 743,
"hgvs_c": "c.832G>A",
"hgvs_p": "p.Glu278Lys",
"transcript": "ENST00000871037.1",
"protein_id": "ENSP00000541096.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 318,
"cds_start": 832,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871037.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASGR2",
"gene_hgnc_id": 743,
"hgvs_c": "c.832G>A",
"hgvs_p": "p.Glu278Lys",
"transcript": "ENST00000871049.1",
"protein_id": "ENSP00000541108.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 318,
"cds_start": 832,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871049.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASGR2",
"gene_hgnc_id": 743,
"hgvs_c": "c.811G>A",
"hgvs_p": "p.Glu271Lys",
"transcript": "NM_001181.4",
"protein_id": "NP_001172.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 311,
"cds_start": 811,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001181.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASGR2",
"gene_hgnc_id": 743,
"hgvs_c": "c.811G>A",
"hgvs_p": "p.Glu271Lys",
"transcript": "NM_080912.3",
"protein_id": "NP_550434.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 311,
"cds_start": 811,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_080912.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASGR2",
"gene_hgnc_id": 743,
"hgvs_c": "c.796G>A",
"hgvs_p": "p.Glu266Lys",
"transcript": "ENST00000870987.1",
"protein_id": "ENSP00000541046.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 306,
"cds_start": 796,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870987.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASGR2",
"gene_hgnc_id": 743,
"hgvs_c": "c.796G>A",
"hgvs_p": "p.Glu266Lys",
"transcript": "ENST00000870991.1",
"protein_id": "ENSP00000541050.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 306,
"cds_start": 796,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870991.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASGR2",
"gene_hgnc_id": 743,
"hgvs_c": "c.796G>A",
"hgvs_p": "p.Glu266Lys",
"transcript": "ENST00000870992.1",
"protein_id": "ENSP00000541051.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 306,
"cds_start": 796,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870992.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASGR2",
"gene_hgnc_id": 743,
"hgvs_c": "c.796G>A",
"hgvs_p": "p.Glu266Lys",
"transcript": "ENST00000871009.1",
"protein_id": "ENSP00000541068.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 306,
"cds_start": 796,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871009.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASGR2",
"gene_hgnc_id": 743,
"hgvs_c": "c.796G>A",
"hgvs_p": "p.Glu266Lys",
"transcript": "ENST00000871014.1",
"protein_id": "ENSP00000541073.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 306,
"cds_start": 796,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871014.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASGR2",
"gene_hgnc_id": 743,
"hgvs_c": "c.796G>A",
"hgvs_p": "p.Glu266Lys",
"transcript": "ENST00000871017.1",
"protein_id": "ENSP00000541076.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 306,
"cds_start": 796,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871017.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASGR2",
"gene_hgnc_id": 743,
"hgvs_c": "c.796G>A",
"hgvs_p": "p.Glu266Lys",
"transcript": "ENST00000871022.1",
"protein_id": "ENSP00000541081.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 306,
"cds_start": 796,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871022.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASGR2",
"gene_hgnc_id": 743,
"hgvs_c": "c.796G>A",
"hgvs_p": "p.Glu266Lys",
"transcript": "ENST00000871029.1",
"protein_id": "ENSP00000541088.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 306,
"cds_start": 796,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871029.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASGR2",
"gene_hgnc_id": 743,
"hgvs_c": "c.796G>A",
"hgvs_p": "p.Glu266Lys",
"transcript": "ENST00000871048.1",
"protein_id": "ENSP00000541107.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 306,
"cds_start": 796,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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{
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{
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{
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{
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{
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},
{
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],
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"biotype": "protein_coding",
"feature": "XM_024450757.2"
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],
"gene_symbol": "ASGR2",
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"dbsnp": "rs1369634043",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
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"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.19257009029388428,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.11,
"revel_prediction": "Benign",
"alphamissense_score": 0.2081,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.016,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001181.4",
"gene_symbol": "ASGR2",
"hgnc_id": 743,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.811G>A",
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}