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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: 20-3227861-G-GGGGA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=3227861&ref=G&alt=GGGGA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 3227861,
"ref": "G",
"alt": "GGGGA",
"effect": "splice_region_variant,intron_variant",
"transcript": "NM_001174090.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.2559-9_2559-6dupTCCC",
"hgvs_p": null,
"transcript": "NM_001174089.2",
"protein_id": "NP_001167560.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 875,
"cds_start": null,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000642402.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001174089.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.2559-6_2559-5insTCCC",
"hgvs_p": null,
"transcript": "ENST00000642402.1",
"protein_id": "ENSP00000493503.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 875,
"cds_start": null,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001174089.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642402.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.2607-6_2607-5insTCCC",
"hgvs_p": null,
"transcript": "ENST00000380056.7",
"protein_id": "ENSP00000369396.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 891,
"cds_start": null,
"cds_end": null,
"cds_length": 2676,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380056.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.2688-9_2688-6dupTCCC",
"hgvs_p": null,
"transcript": "NM_001174090.2",
"protein_id": "NP_001167561.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 918,
"cds_start": null,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001174090.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.2688-6_2688-5insTCCC",
"hgvs_p": null,
"transcript": "ENST00000380059.7",
"protein_id": "ENSP00000369399.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 918,
"cds_start": null,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380059.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.2607-9_2607-6dupTCCC",
"hgvs_p": null,
"transcript": "NM_032034.4",
"protein_id": "NP_114423.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 891,
"cds_start": null,
"cds_end": null,
"cds_length": 2676,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032034.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.2574-9_2574-6dupTCCC",
"hgvs_p": null,
"transcript": "NM_001400280.1",
"protein_id": "NP_001387209.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 880,
"cds_start": null,
"cds_end": null,
"cds_length": 2643,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400280.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.2553-6_2553-5insTCCC",
"hgvs_p": null,
"transcript": "ENST00000925552.1",
"protein_id": "ENSP00000595611.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 873,
"cds_start": null,
"cds_end": null,
"cds_length": 2622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925552.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.2502-9_2502-6dupTCCC",
"hgvs_p": null,
"transcript": "NM_001400277.1",
"protein_id": "NP_001387206.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 856,
"cds_start": null,
"cds_end": null,
"cds_length": 2571,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400277.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.2502-9_2502-6dupTCCC",
"hgvs_p": null,
"transcript": "NM_001400278.1",
"protein_id": "NP_001387207.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 856,
"cds_start": null,
"cds_end": null,
"cds_length": 2571,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400278.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.2502-9_2502-6dupTCCC",
"hgvs_p": null,
"transcript": "NM_001400279.1",
"protein_id": "NP_001387208.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 856,
"cds_start": null,
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"cds_length": 2571,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400279.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.2490-6_2490-5insTCCC",
"hgvs_p": null,
"transcript": "ENST00000644011.1",
"protein_id": "ENSP00000496214.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 852,
"cds_start": null,
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"cds_length": 2559,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644011.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.2487-6_2487-5insTCCC",
"hgvs_p": null,
"transcript": "ENST00000876657.1",
"protein_id": "ENSP00000546716.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 851,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876657.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.2487-6_2487-5insTCCC",
"hgvs_p": null,
"transcript": "ENST00000925551.1",
"protein_id": "ENSP00000595610.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 851,
"cds_start": null,
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"cds_length": 2556,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925551.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.2484-6_2484-5insTCCC",
"hgvs_p": null,
"transcript": "ENST00000876658.1",
"protein_id": "ENSP00000546717.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000876658.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.2445-9_2445-6dupTCCC",
"hgvs_p": null,
"transcript": "NM_001363745.2",
"protein_id": "NP_001350674.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 837,
"cds_start": null,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363745.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.2445-6_2445-5insTCCC",
"hgvs_p": null,
"transcript": "ENST00000647296.1",
"protein_id": "ENSP00000495050.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 837,
"cds_start": null,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647296.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.2439-6_2439-5insTCCC",
"hgvs_p": null,
"transcript": "ENST00000876659.1",
"protein_id": "ENSP00000546718.1",
"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,
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"biotype": "protein_coding",
"feature": "ENST00000876659.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.2415-6_2415-5insTCCC",
"hgvs_p": null,
"transcript": "ENST00000925550.1",
"protein_id": "ENSP00000595609.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 827,
"cds_start": null,
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"cds_length": 2484,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925550.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.2358-6_2358-5insTCCC",
"hgvs_p": null,
"transcript": "ENST00000644692.1",
"protein_id": "ENSP00000493824.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 808,
"cds_start": null,
"cds_end": null,
"cds_length": 2427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644692.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.2607-9_2607-6dupTCCC",
"hgvs_p": null,
"transcript": "XM_047440540.1",
"protein_id": "XP_047296496.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 891,
"cds_start": null,
"cds_end": null,
"cds_length": 2676,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440540.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": 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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"intron_variant"
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"biotype": "pseudogene",
"feature": "NR_174471.1"
}
],
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": -1.594,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"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,BP6_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP6_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001174090.2",
"gene_symbol": "SLC4A11",
"hgnc_id": 16438,
"effects": [
"splice_region_variant",
"intron_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.2688-9_2688-6dupTCCC",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}